Causes of development of skeletal dysplasia in the fetus. Diastrophic dysplasia

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Congenital systemic skeletal disease itself is rare, but is the main cause of dwarfism and various types of skeletal deformities. These include dysplasia (growth disorder), dysostosis (bone malformations), idiopathic osteolysis (pathological bone resorption), chromosomal aberrations with skeletal underdevelopment and metabolic disorders causing skeletal damage.

Terminology. The term "dwarfism" has been replaced by the term "dysplasia". Genetic dysplasia has clinical genetic and/or radiological characteristics. The name reflects the skeletal part involved in the process or some other features of the clinical picture of the disease. Diseases characterized by dwarf stature are divided into conditions with a short body and short limbs; the latter, in turn, are divided into rhizomelia (shortening mainly of the proximal segments of the limbs), mesomelia (shortening of the middle segments) and acromelia (shortening of the distal segments). With dysplasia such as acromesomelia, both the middle and distal parts of the limbs are shortened. Other names for dysplasias of different parts of the skeleton reflect their specific radiological appearance (for example, spotted chondrodysplasia) or the localization of the process (for example, epiphyseal, metaphyseal or diaphyseal dysplasia). In case of primary damage to the skull, the prefix cranio- is used, in case of severe damage to the spine - spondylo-.

Diagnosis and assessment. In most cases, congenital dysplasia of the bone apparatus reveals a disproportionality in the length of the limbs and torso. Usually the patient's limbs are relatively short, which is noticeable even in congenital spondyloepiphyseal dysplasia and metatropic dysplasia, in which as the child grows, an obvious disproportion between the shortened trunk and limbs is revealed. With a mild difference in the length of the trunk and limbs, dysplasia is indicated by a disproportionately large head (for example, with achondro- or hypochondroplasia). Associated anomalies help make the correct diagnosis. With Knist dysplasia, congenital spondyloepiphyseal dysplasia and Stickler arthrophthalmopathy, a cleft palate (“cleft palate”) is quite often observed; polydactyly is often combined with chondroectodermal dysplasia (Ellis-Van Creveld syndrome), asphyxic thoracic dysplasia and other syndromes characterized by short ribs and polydactyly.
Infants with short ribs and polydactyly, thanatotropic dysplasia, and lethal perinatal osteogenesis imperfecta die as a result of respiratory failure due to a small short chest.
Skeletal dysplasia is detected in children of any age. Most common cause When parents visit a doctor, the child’s height is disproportionately small due to either relatively short limbs or torso in combination with kyphosis or scoliosis. With spotted chondrodysplasia (calcific chondrodystrophy, Conradi-Hünermann syndrome), hemimelic epiphyseal dysplasia (Trevor syndrome) and multiple cartilaginous exostoses, asymmetrical growth of the limbs is often noted. The clinical picture can be determined by reduced skeletal bone density, for example, in osteogenesis imperfecta syndromes, or their increased density, hematological or neurological complications, for example, in hyperostotic skeletal dysplasia.
The tactics for these disorders of skeletal development are the same regardless of the time of visiting a doctor. To establish the true nature of the disease, a thorough analysis of the course of pregnancy, peri- and postnatal development of the child, as well as family history data should be carried out. During a physical examination, they evaluate the symmetry and proportionality of the patient’s physique and try to identify concomitant malformations of the skeleton and other organs and systems: they measure height, the length of the upper and lower segments (AS and NS, respectively) of the body, arm span, head and chest circumference; data from periodic measurements are recorded and plotted on appropriate growth charts. For patients with achondropathic dysplasia or other diseases, special growth charts have been developed. Determining the BC/HC ratio and arm span/height helps to make the correct diagnosis. For example, a greater than normal BC/HC ratio is characteristic of brachyskelia (in which the arm span is usually less than height and body length), while a decrease in the BC/HC ratio occurs with a short body, for example, with spondyloepiphyseal dysplasia.
When carrying out differential diagnosis of skeletal dysplasia, an x-ray examination of the patient is necessary. Serial radiological examination is required to diagnose some conditions and evaluate complications specific to each type of dysplasia.
During consultations with children, it may be necessary to conduct a full range of skeletal examinations, namely anteroposterior, lateral and survey radiography of the skull, anteroposterior and lateral of the spine and anteroposterior of the pelvic bones and limbs, separately of the hands and feet. X-ray of the feet in the lateral projection is of great importance for identifying areas of ossification of the calcaneus and identifying hypoplasia of the calcaneus and talus in epiphyseal dysplasia.
For some diseases, the diagnosis is made on the basis of an x-ray picture, while for others, serial x-ray examination or revision of x-ray images by experienced specialists is necessary to clarify it. In some countries, there are special skeletal dysplasia registries for these purposes.

Pathological signs. With different types of dysplasia, especially with fatal diseases of newborns, specific histological or ultrastructural changes are detected. During the autopsy, it is necessary, if possible, to select for examination material from the costochondral joint and the growth plates of the iliac crest and long bones such as the femur, tibia, or fibula.
The greatest diagnostic value is an intravital biopsy of the rib or iliac crest. The optimal solution is a trephine biopsy of the iliac crest. Appropriate studies make it possible to differentiate fairly similar conditions, but in some dysplasias only nonspecific histopathological changes are detected. In such cases, pathological examination allows us to exclude other diseases.

Biochemical research methods. In patients with severe congenital hypophosphatasia, the activity of serum alkaline phosphatase decreases and the level of phosphorylethanolamine in the urine increases. In cultured fibroblasts, the activity of bone and liver isoenzymes of alkaline phosphatase is studied. Lysosomal storage diseases are characterized by a deficiency of specific lysosomal enzymes in serum, leukocytes and skin fibroblast cultures. At the same time, the biochemical changes that determine most skeletal dysplasias remain unknown. Research is carried out intensively, and a child with a congenital disease is immediately consulted with specialists.
Certain skeletal dysplasias are characterized by impaired immunity (Table 22-1), neurological disorders, impaired renal function (Table 22-2), cardiovascular system impairment, decreased vision, hearing and speech function(Table 22-3).

Table 22-1. Skeletal dysplasias associated with immunodeficiency conditions

*McKusick V. L. Mendelian inheritance in Man.-6th ed. - Baltimore, 1983.
**Probably two different syndromes.

Table 22-2. Skeletal dysplasias, often accompanied by impaired renal function

*McKusick V. A. Mendelian Inheritance in man.-6th ed. - Baltimore, 1983.

Table 22-3. Skeletal dysplasia accompanied by hearing impairment

*Recurrent and severe form of chronic otitis.
**Rarely.

These complications should be promptly and actively diagnosed during initial examination and conduct clinical observation throughout the patient’s life.

Treatment. For effective treatment necessary: ​​1) an accurate diagnosis, 2) rapid identification of specific complications from the musculoskeletal system and other organs and systems,

1. specific orthopedic correction and rehabilitation,
2. psycho-emotional support and social recommendations and advice, 5) genetic counseling. There is no specific treatment for these conditions. Growth hormone is not indicated for short stature caused by dysplasia. The effectiveness of androgenic hormones is questionable, but there are observations on the use of oxandrolone.

Orthopedic correction is aimed at achieving maximum mobility and eliminating deformities; the consequence of their untimely correction (before reaching adolescence) may be the development of osteoarthritis with subsequent formation of false joints. Early diagnosis of spinal deformity and its timely correction using immobilization or minimal surgical intervention can reduce the likelihood of long-term complications (scoliosis, etc.).
With such patients it is necessary to carry out intensive explanatory work for a long time and often; they need emotional support and recommendations. Some community organizations (see references) provide emotional support and an appropriate environment in which people with dwarfism can better adjust to life.

EDS is based on a defect in the development of articular cartilage. This defect extends to both the long bones and the spine. The clinical picture of EDS is quite variable and in all cases manifests itself as the child grows.

Characteristic for all patients are short stature, fatigue, and pain in the lower extremities during exercise.

MED is often called Fairbank's disease, who described the clinical and radiological picture in more detail and gave it its name. MED is based on a defect in the center of ossification of the epiphyses.

In this case, cartilage formation occurs normally, but ossification processes are disrupted.

• Pseudoachondroplasia

groin stands apart among diseases affecting the epiphyses and is accompanied by severe dwarfism with shortened limbs, which for a long time did not allow us to distinguish it from the group of diseases united by the term “achondroplasia”. On the other hand, multiple lesions of the epiphyses and spine gave reason to consider pseudoachondroplasia a form of epiphyseal dysplasia. The disease was described in 1959 by P. Maroteaux and M. Lamy under the name “pseudoachondroplastic spondyloepiphyseal dysplasia.” W. Ford et al. in 1961 they also described cases of dwarfism in which signs of epiphyseal dysplasia and achondroplasia were combined. The disease has been classified into two forms of epiphyseal dysplasia - the pseudoachondroplastic form of EDS and MED. Since 1969, according to the “Paris Nomenclature”, approved by the International Congress on Bone Dysplasias held in 1984, this disease has been called “pseudoachondroplasia”.

Children with groin syndrome are born without visible deformities. After 2-3 years of age, and sometimes even earlier, a “duck” gait, fatigue, or pain in the lower extremities appear. Quite early, parents notice growth retardation. The physique gradually changes: the limbs shorten, more at the expense of the proximal parts, contractures appear in the elbow joints, the child has difficulty raising his arms up. The hands become wide, the fingers become short and thick. There is hypermobility in the wrist joints and in the joints of the hand (the hand is soft when squeezed). The head and torso usually do not change, only the lumbar lordosis increases in the vertical position of the torso. The lower limbs are usually deformed. Both valgus and varus deformities are noted. In some cases, there is a genu valgum on one side and a genu varum on the other. If these deformities progress sharply, a secondary change in the skeleton occurs: pelvic distortion, spinal curvature, hip subluxation, subluxation in the knee and ankle joints. The feet of these patients are spread out, wide, and short. As in the hands, there is hypermobility of the joints of the feet.

Intelligence is always preserved. The cause of disability is early osteoarthritis of the hip and knee joints.

The X-ray picture for groin is very characteristic. The pelvis is wide, the diameter of the entrance to the small pelvis is widened. The roofs of the acetabulum are horizontal, their contours are uneven and fibrous. The heads of the femurs are very small, rounded, with an uneven mottled structure. The gap of the knee joint is widened, the epiphyses of the femur and tibia are small, round, also with a speckled structure along the periphery. The metaphyses are cup-shaped and widened with marginal defects. The fibula is relatively elongated. In the hands, the formation of ossification nuclei of the carpal bones is significantly delayed. The heads of the metacarpal bones are small. The phalanges of the fingers are shortened and expanded. The changes in the feet are similar. The vertebral bodies are oval in shape, there are deep defects in the area of ​​the apophyseal angles, the central part seems to be extended forward in the form of a beak. With age, the shape of the vertebrae is restored. The epiphyses of the tubular bones acquire a uniform structure; only their deformation and flattening are preserved.

• Diastrophic dysplasia

M. Lamy and P. Moroteaux in 1960 described a disease that was previously accepted as “an atypical form of achondroplasia with clubfoot.” The authors called this disease diastrophic dwarfism. The word “diastrophic” is derived from Greek, which translated into Russian means crooked, twisted." DD is based on a neuromesodermal defect in which the correct development of the epiphyses is disrupted. Although DD is accompanied by damage to the epiphyses and from this point of view is part of the group of epiphyseal dysplasias , it is at the same time a variant of dwarfism with shortened limbs. DD is one of the diseases in which dysplastic changes can be observed in bone and cartilage tissues, in the tissues of the joints, oral cavity and trachea. This disease, in addition to micromelia, is characterized by scoliotic deformation of the spine and chest , dislocations and subluxations in the joints of the limbs, flexion contractures and pronounced bilateral clubfoot, hitch-hiken deformity of the thumb, deformation of the ears and cleft palate. The existing point of view on the role of maternal infection in early pregnancy or the teratological effect associated with maternal intake of tetracyclines in the etiopathogenesis of DD is not shared by the vast majority of researchers who consider DD to be a generalized connective tissue disease. The classification place of diastrophic dysplasia has not been determined. This disease was classified by a number of authors as a group of dysostoses. Domestic authors described this disease under the name "epiphyseal dysostosis", taking into account the participation of various systems in the pathological process. However, an international conference on the classification of bone dysplasias, held in Paris in 1977, approved the status of dysplasias for the disease and the name “diastrophic dysplasia” instead of “diastrophic dwarfism.”

Studying the clinical and radiological picture and issues of differential diagnosis various forms OCD, many authors paid attention to patients whose changes in the spine were similar to those in EDS, but were accompanied by completely unique damage to the joints. The X-ray picture was especially unusual hip joints. A similar form of hereditary systemic bone disease has been described under the name "Spondyloepiphyseal dysplasia congenita" (congenital spondyloepiphyseal dysplasia), taking into account the characteristic changes in the spine and flattening of the epiphyses of long tubular bones (mainly the femur), and the fact that the disease is detected at birth. Many authors have pointed out the difficulty of differential diagnosis of VEDS and the need to distinguish this form of dysplasia from true EDS and Morquio syndrome. A double difficulty is the need for simultaneous differential diagnosis between VEDS and other diseases of the group of disproportionate dwarfs. IVED is evident from birth, but the clinical presentation in infancy differs from the typical presentation in childhood. At birth, there is shortening of the limbs, a body of normal length with a large belly and a barrel-shaped chest. Movement in the joints is free, except for the hip, where there is a sharp limitation in hip abduction. In the first months of life, muscle hypotonia is observed. As the child grows, the rate of growth of the spine lags behind the rate of growth of the limbs and the disproportion of the physique changes: the torso shortens and the limbs become longer. Due to the very short neck, the head is thrown back and seems to “sit” on the body. A face with a characteristic sad expression. Sharp lumbar lordosis, “duck-like” gait. Patients quickly get tired and complain of pain in the legs, and later in the lower back. Radiologically, changes in the hip joints and spine are especially characteristic. An X-ray of the hip joints shows a delay in ossification of the head of the femur (sometimes up to 7-8 years), and when the ossification nuclei of the head begin to project, a pronounced coxa vara is visible; sometimes the femoral neck stands at an acute angle to the femur. Due to the pronounced coxa vara, on the radiograph in children, before the appearance of the ossification nuclei of the femoral heads, high-standing and outwardly displaced proximal ends of the femurs are visible, and, despite the fact that the acetabulum is always formed, this condition is often mistaken for congenital dislocation of the hip. Changes in the spine are expressed in a decrease in the height of the thoracic vertebral bodies, the gaps between the vertebrae are narrowed.

• Metatropic dysplasia

P. Marofeaux et al. described a disease that in the patient at birth is similar to achondroplasia (sharp shortening of the limbs), and in older children imitates Morquio syndrome (due to retarded growth of the spine, severe scoliosis). It is described in some detail by other authors under the name metatropic dysplasia. The disease manifests itself from birth.

• Knista dysplasia

The disease was described in 1952 in a child with unusual dwarfism and identified as a separate nosological unit, which is currently called “Knist dysplasia.” Previously, such patients were diagnosed with “metatropic dwarfism type II” and “pseudo-metatropic dwarfism.” These two diseases were combined because they have much in common. Thus, in infancy, shortening of the limbs and limitation of movements in them are noted. As the child grows, changes in the face are more clearly visible: it is flattened, with small eye sockets, and a flat bridge of the nose. These patients often have cleft palate, hearing loss, and myopia, which may be accompanied by retinal detachment. As the child grows, kyphoscoliosis may appear and lumbar lordosis increases. The joints of the limbs are enlarged, pain occurs when moving, and flexion contractures appear. Hands with long and knobby fingers, flexion in them is limited (especially in the metacarpophalangeal joints), which negatively affects the function of the hand. Patients usually have an umbilical and inguinal hernias.

Development of motor functions and speech may be delayed, but intelligence is usually normal.

In 1962, N. Dyggve, J. Melchior and J. Clausen described the disease in a family where 3 children born from a marriage between an uncle and niece were sick. The symptoms were reminiscent of Hurler and Morquio syndromes (Morkio pseudosyndrome). Dwarfism with mental retardation, radiologically pronounced platinum spondyly and specific changes in the iliac bones were determined. An increased level of glycosaminoglycans was found in the urine, and an increased content of metachromatic granules was found in peripheral blood leukocytes.

Point chondrodysplasia (TC) refers to a group of skeletal dysplasias, which are characterized by point calcification of the epiphyses both in the zones of the growth plates of all parts of the skeleton, and in the para-articular areas. TX includes at least three genetic forms of the disease: the most severe autosomal recessive rhizomelic form; a severe autosomal dominant form (Conradi-Hünnerman) and a relatively recently identified weaker X-linked recessive form.

• Mucopolysaccharidoses

MPS, by the nature of bone changes, are diseases with damage to the epiphyses, which explains the difficulties of their differential diagnosis with other epiphyseal dysplasias. The situation when the differential diagnosis of MPS is not sufficiently detailed leads to diagnostic errors when, on the basis of platyspondyly, flattening of the epiphyses of long tubular bones (without specifying the nature of these symptoms) and hyperexcretion of glycosaminoglycans in the urine, the disease is interpreted as MPS. The other extreme is that, based on the same skeletal changes, MPS (mainly with a Morquio-like phenotype) without taking into account other phenotypic manifestations is diagnosed as EDS or another disease of the group of dysplasias affecting the epiphyses. This leads to incorrect orthopedic treatment and false medical and genetic counseling. There is no doubt that to identify the true mechanisms of development of MPS, to develop pathogenetic methods for their treatment, molecular genetic approaches are needed.

It is important to establish a group diagnosis of MPS, isolate MPS from the general group of bone dysplasias and identify two fundamentally different clinical phenotypes: Hurler-like (including MPS IH, IS, II, III, VI, VII and multiple sulfatidosis) and Morquio-like (including MPS IV and VIII).

The clinical picture of MPS in the Hurler-like group is the same and differs mainly in the severity of the manifestation. Children are born normal, but then deformities gradually appear and increase. Children often suffer from respiratory diseases, they have chronic rhinitis and noisy breathing. Such patients are stunted4 in growth. They have a short neck, their shoulder blades are located higher than normal. Gradually, rough facial features (Hurler-like face) and contractures in the joints appear and progress. Initially, the upper limbs are affected: the fingers of the hands bend, the hands become wide, strong, and there is no extension in them. Gait changes due to contractures in the joints lower limbs(walk on bent legs, often on tiptoes). Changes in orthopedic status are combined with extraskeletal changes/

Radiologically, the most characteristic changes are the pelvis, hip joints and hands. The pelvis is compressed from the sides, the femoral heads are small, flattened, coxa valga is present, and the necks of the femurs are thinned. In the hand, the appearance of ossification nuclei of the carpal bones is delayed, the metacarpal bones are short, wide, their proximal parts are narrowed, the phalanges of the fingers are wide, the distal phalanges are hypoplastic/

MPS C is the most severe. The first symptoms appear in the first months of a child’s life and progress quickly. There is a sharp decline in mental development. By 2-3 years, a typical clinical picture develops. But we must remember that MPS IH in the first year of life must be differentiated from congenital hypothyroidism.

Children with MPS C are often born with a larger birth weight and may have prolonged jaundice. Characterized by apathy, slowness, lack of appetite, constipation. Hernias may be observed. Such children have a puffy face, a large and often protruding tongue, a large belly, and dry skin. In the second half of life, it is easier to establish a diagnosis, since there is a lag in psychomotor development. Late closure of the fontanelle and delayed appearance of baby teeth are noted. Unfixed kyphosis and limited hip abduction may occur.

With MPS VI - Maroteau-Lami syndrome, the first signs of the disease appear after 2 years of age and by 7-9 years they become very characteristic. These patients reach 145-155 cm in height. The facial features are coarse, but not the same as in MPS IH or II, contractures in the joints are pronounced, children are “stiffened” when moving. It is characteristic of this type of MPS that the clinical picture is expressed quite sharply, but mental development never suffers. These two MPS phenotypes are accompanied by characteristic skeletal changes.

The clinical picture of Morquio-like MPS differs sharply from that of Hurler-like pathology. Patients are dwarfs, with a specific face and a short body. The first signs of the disease appear after 2 years of age and increase rapidly. The head is quite large, coarse facial features (hypertelorism, saddle-shaped bridge of the nose, protruding lower part of the face). They have a short, keeled chest, and many have kyphosis. The shoulder blades are located high, the forearms are deformed, the hands are soft. Enlarged joints (wrist, knee and ankle). This is especially noticeable due to reduced nutrition. The lower limbs are curved (genu valgum), the feet are spread out. Children get tired quickly, their gait quickly deteriorates, and many stop walking.

Radiologically, the most characteristic changes are the pelvis, hip joints and hands. The pelvis is compressed from the sides, the femoral heads are small, flattened, coxa valga is present, and the necks of the femurs are thinned. In the hand, the appearance of ossification nuclei of the carpal bones is delayed, the metacarpal bones are short, wide, their proximal parts are narrowed, the phalanges of the fingers are wide, the distal phalanges are hypoplastic.

MPS IH is the most severe. The first symptoms appear in the first months of a child’s life and progress rapidly. There is a sharp decline in mental development. By 2-3 years, a typical clinical picture develops. But we must remember that MPS IH in the first year of life must be differentiated from congenital hypothyroidism.

Babies with MPS IH are often born with a larger birth weight and may have prolonged jaundice. Characterized by apathy, slowness, lack of appetite, constipation. Hernias may be observed. Such children have a puffy face, a large and often protruding tongue, a large belly, and dry skin. In the second half of life, it is easier to establish a diagnosis, since there is a lag in psychomotor development. Late closure of the fontanelle and delayed appearance of baby teeth are noted. Unfixed kyphosis and limited hip abduction may occur.

All ossification points detected radiographically appear with a significant delay, but the order of their occurrence is usual.

Early diagnosis of hypothyroidism is necessary to begin timely treatment, since children who receive treatment from the first 6 months of life can develop normally, which cannot be said about children for whom treatment is started late.

In terms of the pattern of bone changes, MPS II is similar to MPS IH. Boys always get sick, mostly with blond hair and dark thick eyebrows. This type of MPS is characterized by the disappearance of coordination of movements by 2-6 years (the child often falls), the behavior of children becomes uneven and sometimes aggressive. They do not eat solid food well. There is a nodular skin lesion between the shoulder blades. Corneal clouding is usually not observed. The facial features have a vaguely expressed Gurler-like character.

With MPS IS, the first symptoms appear late (at 3-6 years of age) and develop very slowly. The full clinical picture is revealed by the time of puberty. Corneal opacity is detected during adolescence and is often more pronounced in the periphery. Hepatosplenomegaly is rare. Typical for MPS IS is an aortic valve defect. Mental development is slightly reduced, and sometimes does not suffer. The severity of the damage to the osteoarticular system is the mildest of all MPS of the Hurler-like type.

With MPS VI - Maroteau-Lami syndrome, the first signs of the disease appear after 2 years of age and by 7-9 years they become very characteristic. These patients reach 145-155 cm in height. The facial features are rough, but not the same as in MPS C or II, contractures in the joints are pronounced, children are “stiffened” when moving. It is characteristic of this type of MPS that the clinical picture is expressed quite sharply, but mental development never suffers. These two MPS phenotypes are accompanied by characteristic skeletal changes.

The clinical picture of Morquio-like MPS differs sharply from that of Hurler-like pathology. Patients are dwarfs, with a specific face and a short body. The first signs of the disease appear after 2 years of age and increase rapidly. The head is quite large, coarse facial features (hypertelorism, saddle-shaped bridge of the nose, protruding lower part of the face). They have a short, keeled chest, and many have kyphosis. The shoulder blades are located high, the forearms are deformed, the hands are soft. Enlarged joints (wrist, knee and ankle). This is especially noticeable due to reduced nutrition. The lower limbs are curved (genu valgum), the feet are spread out. Children get tired quickly, their gait quickly deteriorates, and many stop walking (the reason is compression of the spinal cord). Radiologically, hypoplasia or absence of the C tooth and signs of instability of the atlanto-occipital joint are characteristic. Universal platinum spondyly is observed. Changes in the pelvis are also characteristic: the acetabulum is wide, flat, pressed into the small pelvis, the wings of the ilium are curved, hanging over the heads of the femurs. Their necks are valgus, their heads are sharply flattened and fragmented. The changes in the hands are similar to those in the Gurler-like group.

Children often have poor hearing (early hearing loss); there is a tendency to catch colds. Umbilical and/or inguinal hernias are often observed. In most cases, intelligence is not reduced. Changes in the cardiovascular system such as cardiopathy, enlargement of the liver, and, less commonly, the spleen are often observed. Changes in the eyes are especially pronounced: dystrophic changes in the corneas are characteristic, most often detected using a slit lamp. The total excretion of glycosaminoglycans in urine is increased in all cases. A large number of metachromatically staining granules are also found in polymorphonuclear leukocytes and lymphocytes of patients.

At the same time, all MPS are diseases of glycosaminoglycan accumulation, which occurs due to a defect in the activity of lysosomal hydrolases that carry out their function in lysosomes. One of the informative methods for diagnosing MPS is the study of the ultrastructure of the patient’s connective tissue cells. The most accessible is the examination of skin biopsies. At the same time, characteristic changes are detected in the skin fibroblasts of patients with the Hurler-like phenotype of mucopolysaccharidosis.

Thus, the Hurler-like group of MPS has a certain clinical and radiological phenotype, there is an accumulation of glycosaminoglycans in lysosomes, found in skin fibroblasts, and increased excretion of glycosaminoglycans in the urine. As for the Morquio-like group, such a diagnosis can be established on the basis of clinical, radiological data and hyperexcretion of glycosaminoglycans in the urine, while signs of their accumulation in fibroblasts of skin biopsies are not determined, since keratan sulfate, the breakdown defect of which causes the development of this group of MPS , is not synthesized and, accordingly, cannot accumulate by skin fibroblasts. In this case, a characteristic accumulation of glycosaminoglycans occurs in other connective tissue cells (chondrocytes, keratocytes).

• Achondroplasia

More recently, most disproportionate dwarfs were regarded as having AC. Currently, many forms of dwarfism have been identified.

AC is the most studied type of all forms of hereditary dwarfism with shortened limbs. Children suffering from true AC already at birth have a characteristic clinical picture: a large head, a disproportionate physique with rhizomelic shortening of the limbs. The head may be sharply enlarged, with a large brain part and sharply enlarged fontanelles. A face with a convex forehead and a flattened bridge of the nose. The limbs are shortened, the ends of the fingers of the hands, with a sharp shortening, can reach the inguinal fold, and with a lesser shortening, they can reach the greater trochanter or the upper third of the thigh. Deep skin folds are observed on the shoulders and hips due to excess soft tissue. The hands are short, wide, isodactyly, the fingers are arranged in the form of a trident. In children of the first year of life, looseness of the knee joints is noted. The feet are short and wide. The torso is usually of normal size, the back is either straight, or there is kyphosis in the thoracolumbar spine, which even in small children is fixed and difficult to correct.

• Thanatoform dysplasia

TD was described by P. Marofeaux in 1967, and it got its name from the Greek words “thanatos” (meaning “death”) and “phorus” (seeking), since sick children are born dead or die from respiratory diseases immediately or shortly after birth. The disease is most often confused with AC. At birth, TD is characterized by a sharp shortening of the limbs, a body of relatively normal length, and a rather large head with a pronounced disproportion of the craniofacial region according to the ACH type. A distinctive feature of TD is the narrowing of the chest, reminiscent of a pear. Severe hydrocephalus may occur, making childbirth difficult. A wide variety of extraskeletal anomalies have been described in patients with TD: patent ductus arteriosus, atrioseptal defects, narrowing of the aortic walls, and brain abnormalities. X-ray signs of TD are diagnostic: pronounced platyspondyly with relatively widened intervertebral discs; caudal expansion of the spinal canal. Femurs look crooked. The ribs are shortened and flattened, the sternum is depressed.

• Mesomelic dysplasia

MMD is a heterogeneous group of OCD, which is characterized by shortening primarily of the radioulnar and tibial and fibular segments of the extremities. M M D combines 6 types of the disease, 5 of which appear already at the birth of the child (Nivergelt, Langer, Robbinov, Reinhardt Pfeiffer and Werner types). The most common type is M M D dyschondrosteosis is the only representative of mesomelic dysplasia, which does not manifest itself from birth, but mainly in preschool age. Most often manifests itself as a moderate decrease in height. Other signs of shortening of the forearm and lower leg become noticeable later. Unlike other representatives of osteochondrodysplasias, radial clubhand (the so-called bilateral Madelung deformity) is typical for dyschondrosteosis. The radiograph reveals a triangular shape of the first row of carpal bones, subluxation or dislocation of the hand in the wrist joint. The radius is shortened and the hand is shifted to the dorsal side, as a result of which the upper limb resembles a “bayonet” when viewed from the side. Dyschondrosteosis should be differentiated from Madelung's deformity, which can be one-sided. It is now generally accepted that all cases of “bilateral Madelung deformity” should be considered dyschondrosteosis.

• Metaphyseal chondrodysplasia

Metaphyseal dysplasias are a heterogeneous group of diseases characterized by predominantly metaphyseal lesions with relatively normal epiphyses and spine. The most striking representative of metaphyseal dysplasia is the MCD group. MCD is based on delayed enchondral growth, which occurs as a result of insufficient and improper ossification in the area of ​​the metaphyses of long tubular bones. The development of the epiphyses and bone growth from the periosteum are not impaired. Clinically, this group of diseases is characterized by growth retardation and limb deformities in patients.

In terms of J. Spranger's concept of the existence of J. Spranger's concept of the existence of "families of bone dysplasia", mentioned above when describing Kniest's dysplasia.

In 1966, Giedion described a syndrome characterized by thin and slow-growing hair, a pear-shaped nose, and brachydactyly with wedge-shaped epiphyses. The syndrome is called trichorinophalangeal dysplasia. Some authors have classified this disease as type I, while TRPP, or Langer-Giedion syndrome, is a combination of the TRFI phenotype with varying degrees of mental retardation and multiple osteochondral exostoses.

In terms of the course of exostoses, LGS always resembles the IV clinical form of MECD, and in some cases the disease is more pronounced. Observation of patients with LGS indicates an “aggressive” course of exostoses, since, regardless of the form and location, all exostoses are characterized by increased growth activity. With LSH, the bones look thinned, and dystrophic changes such as cystic restructuring are observed in them.

• Metachondromatosis

Metachondromatosis is one of the “youngest” in the “family of bone dysplasias” under consideration. It is characterized by a combination of exostoses with bone changes like enchondromatosis. Enchondromatosis in metachondromatosis is unique and, in addition to the metaphysis, also covers the paraarticular region and is always located eccentrically. The course of the disease in this syndrome is always favorable, since all exostoses are characterized by “normal” growth activity. Localization of exostoses is mainly on the hand and foot, in a number of cases also on the distal part of long tubular bones. The prevailing opinion is that exostoses localized on the hand with metachondromatosis undergo reverse development during skeletal growth.

Until recently, this “family of bone dysplasias” was considered a monogenic disease called multiple exostotic chondrodysplasia. The subsequent accumulation of clinical material made it possible to identify a number of forms: with TRF in most cases there are no exostoses, for metachondromatosis the course of exostoses is favorable, with LSG there is a more pronounced manifestation of exostoses in combination with degenerative disorders in the bones, and for MECD clinical polymorphism is pathognomonic.

• Osteogenesis imperfecta

According to the X-ray anatomical classification, it belongs to the group of diaphyseal dysplasias. Characteristic clinical signs of imperfect bone formation are frequent fractures, often accompanied by gray-blue sclera and early hearing loss. In the literature, two forms of the disease are distinguished: congenital (when a child is born with deformation of the lower extremities as a result of intrauterine fractures) and late (when fractures appear later). In both this and other forms, gray-blue sclera and late-closing fontanelles may be observed, and sometimes there are soft skull bones in newborns. The teeth are often amber in color, erupt late, and are often affected by caries. Fractures of all skeletal bones are common. Limb deformities can be very large sizes. The number of fractures does not depend on the form of the disease. Early hearing loss. X-ray changes depend on the severity of the process. The main symptom is widespread osteoporosis of the entire skeleton. Periosteal calluses surrounding a healing fracture sometimes reach enormous sizes, stimulating a tumor (pseudosarcoma). The spine exhibits varying degrees of platyspondyly, and the vertebral bodies acquire a biconcave shape. The cranial sutures are widened with a large number of intercalary worm bones. The diameter of the bone diaphysis is reduced, the bones are thinned. The cortical layer is thinned throughout the bones. This nosological form has been known for a long time and has been studied in some detail from the point of view of clinical and radiological diagnosis, but continues to puzzle researchers with its pronounced phenotypic variability. A number of systems have been proposed for the nomenclature and classification of OI syndromes, some of which are now of historical significance. In particular, the opposition between congenital and late forms of OI is considered untenable, since it has been proven that fractures can begin at birth (or already occur at birth) with any form of OI, and even in the same family there may be cases of congenital and late forms of the disease. However, recent data require a reconsideration of the question of the homogeneity of OI as a nosological form, since it is suggested that the clinical variability of OI is due not only to its variable expressivity, but also to a large extent to genetic heterogeneity. Thus, a classification of OI has been proposed, according to which there are 4 genetic variants of the disease: type I, dominantly inherited with blue sclera, early hearing loss and moderate severity of bone changes; type II is perinatally lethal with a presumed autosomal recessive mode of inheritance; type III with severe progressive deformities, normal sclera, dentinogenesis imperfecta and autosomal recessive inheritance; type IV dominantly inherited with normal sclera and wide variability clinical manifestations. However, the possibility of identifying genetic variants of OI based on the description of the clinical phenotype is very doubtful. Phenotypic variability of OI is a reflection of the variable expressivity of the disease. In this sense, special attention was drawn to the question of the distribution of extraosseous signs of OI in families of probands (blue or slate-gray sclera, early hearing loss, dentinogenesis imperfecta). The study of pedigrees showed that parents who have one of these signs or a combination of them, but do not suffer from brittle bones, may have children with various, including severe forms of damage to the osseous-articular apparatus, which should

What causes congenital skeletal malformations. Dysplasia

• Trichorinophalangeal dysplasia and Langer Giedion syndrome

The etiology of LGS has become clear only recently. In almost all patients with LGS examined cytogenetically using the prometaphase chromosome method, a specific microdeletion of chromosome 8 (q24,lq24,13) was detected. This made it possible to consider the syndrome chromosomal. In addition, a similar but small deletion was identified in several patients with TPFI, but slightly more proximal to chromosome 8 (q24.12). Thus, there is reason to believe that LGS and TRFI are a single pathology, but with multiple exostoses in the first case, which, obviously, is their only difference, since it has been proven that the second distinctive feature of LGS, mental retardation, may be absent. If this is so, then it can be assumed that the gene, which is included in the deletion in LSGS, is preserved in TRFI and, undoubtedly, is mutated or subject to deletion in dominantly inherited multiple exostosis syndrome, especially since the location of the MEHD gene is known on the long arm of chromosome 8 near the LSGS gene . In this regard, another aspect of studying the etiology and pathogenesis of MECD arises.

Pathogenesis (what happens?) during Congenital skeletal malformations. Dysplasia

• Achondroplasia

Children with AC are delayed in motor development, sit up and get to their feet late. But this does not mean that they need to be taught to sit and walk, since when a child is seated, his kyphosis sharply increases, and early walking can cause hallux valgus lower extremities. When the child begins to walk, an increase in lumbar lordosis appears.

At birth, the child’s length may be normal (50-52 cm) or less than normal (44-47 cm). During diagnostic observation of patients, we could note that children born with a length less than normal subsequently had a more pronounced disproportion of physique and very short stature; their skeletal lesions were more severe. As the child grows, varus deformity may appear in the knee and ankle joints, which is explained by the faster growth of the fibula.

Typically, patients with AC are practically healthy people, but some of them (in adulthood) experience compression of the spinal cord. In children, such complications are extremely rare. Such children should be under the supervision of neurosurgeons.

• Mesomelic dysplasia
  • MMD Nivergelt. It is characterized by short stature and shortening of the extremities of the mesomelic type, most often the lower ones. Shortening is observed in the legs, on the medial or lateral side of which there is a bony protrusion. There is valgus deformity in the knee joints. The feet are often deformed. When the upper extremities are affected, short, curved forearms are noted. Supination and extension in the elbow joints are limited. The hand may have ulnar deviation and flexion contractures in the fingers. X-ray: the tibia is flat, often diamond-shaped, the tarsals, metatarsals and phalanges of the fingers can become synostotic. The bones of the forearm are short and curved. Radioulnar synostosis usually occurs. In our observations there were patients with lesions of both lower and upper extremities.
  • MMD by Reinhardt Pfeiffer. It manifests itself from birth as moderate mesomelia. It differs from other representatives of MMD in that the diaphyses of the ulna and fibula are flat and arched. The distal parts of the ulna and proximal parts of the fibula are underdeveloped, the heads of the radial bones are dislocated.
  • MMD Werner. It manifests itself from birth as disproportionate dwarfism with severe mesomelia of the legs with almost complete absence of changes in the upper extremities. Sometimes the first finger on the hand and foot may be missing, and polydactyly may be detected. The X-ray picture is typical: the tibia is rudimentary, as a result of which the relatively intact head of the fibula is dislocated.
  • MMD Langer. This is disproportionate dwarfism, manifested from birth, with equally pronounced mesomelia of the upper and lower extremities. X-rays reveal hypoplasia of the upper third of the radius, underdevelopment of the proximal part of the tibia bones, and a rudimentary fibula.
  • MMD Robbing. Moderate mesomelia appears from birth, combined with signs of facial dysmorphism: macrocephaly, protruding forehead, wide bridge of the nose, hypertelorism, saddle nose, triangular mouth with an open downward corner. The forearms are shortened comparatively more than the lower legs. Dislocation of the heads of the radial bones is determined, but the extension in the elbow joints is complete. Characterized by hypermobility in the interphalangeal joints of the hand and foot, and brachydactyly. A pathognomonic sign of the disease is hypoplasia of the external genitalia.

• Multiple exostotic chondrodysplasia

The timing of the manifestation of the disease, the formation of deformities, and the development of complications mainly occur during periods of the most active growth of the skeleton (5-7 years and puberty). In other age periods, the complicated course of the disease is much less common. Skeletal deformation most often occurs in the parts of the skeleton that have the greatest growth potential: the distal third of the femur, the proximal third of the tibia, the distal third of the tibia, and the proximal third of the humerus. X-ray examination of parts of the skeleton, where there is no deformation during examination, always reveals bone damage by exostoses. The earliest radiological symptom of MECD is local protrusion of the cortical layer near the physis. This symptom is detected in very young children, even when the first clinical symptoms (bone protrusions on the ribs, etc.) are absent. All bones of the skeleton are affected, passing through the cartilaginous stage of development. Exostoses are initially always localized near the growth zone. Later, as the skeleton grows, they shift towards the diaphysis. The hypothesis about the passage of exostoses from the growth zone, based on radiological data, was supplemented by us with data from radionuclide studies. Thus, the degree of radionuclide accumulation in the exostosis and in the subchondral parts of the growth zones was the same, i.e., the exostosis was, as it were, a continuation of the growth zone.

The most complete information is provided by the study of the knee joints, since the skeletal parts that form this joint have the greatest growth potential. All exostoses originate from the bone on a narrow (narrow-basal) or wide (broad-basal) pedicle.

This division is based on the patterns of distribution of cartilage tissue in exostoses, which is the source of its growth. Narrow basal exostoses are characterized by the spread of cartilaginous tissue only at the apex to the level of their base. In contrast to wide-basal exostoses, damage to the underlying “maternal” bone is not typical for them. By determining the nature of bone damage by exostoses, it is possible to predict the course of the disease and choose the optimal tactics for clinical examination and surgical treatment. The evolution of exostoses in children depends on the growth rate of their cartilaginous cover and bone formation in it.

Depending on this, the following variants of the evolution of individual exostoses are distinguished.

Exostoses with “normal” growth activity. They are characterized by a balance between the growth of cartilaginous cover and the growth of the affected bone, and uniform bone formation. They often arise from bone on a narrow base. Radiologically, these exostoses are characterized by a spongy structure, relatively small sizes, smooth contours and clear boundaries. The cortical layer of exostosis is like a continuation of that of the affected bone. These exostoses, after the completion of skeletal growth, completely stop growing and never reach large sizes. From an oncological point of view, the prognosis is always favorable, since after growth is complete, the cartilage tissue of such exostoses is completely transformed and they turn into so-called bone exostoses.

Exostoses with increased growth activity and signs of uniform bone formation. In a short time they lead to the formation of deformations and complications. They are characterized by rapid growth of the cartilage cover and its uniform ossification. On the radiograph they also have smooth contours and clear boundaries, in most cases a wide base. Their structure is spongy, homogeneous, but differs from the exostoses of the previous group in a more coarsely looped pattern. These exostoses also turn into bone exostoses after the completion of skeletal growth, so the oncological risk for them is minimal. As they grow, they reach large sizes, causing bone deformation and complications (compression of blood vessels, nerves and other anatomical formations).

Exostoses with increased growth activity and signs of uneven bone formation. In their course in children they do not differ from those discussed above. Radiologically, these exostoses are characterized by an inhomogeneous structural pattern, unclear boundaries and uneven contours; a change in the X-ray structure of the entire metaphyseal section of the affected bone is often determined. The base of the exostosis is wide. The processes of ossification of cartilaginous tissue in these exostoses are not expressed, as evidenced by the presence of calcified cartilage at their apex. From an oncological point of view, the prognosis is unfavorable, since by the time skeletal growth is completed, a cartilaginous growth zone remains along the periphery of the exostosis and in its thickness. The growth of exostoses does not stop after the completion of skeletal growth, so they should potentially be considered as secondary chondromas. Biochemical analysis of the proteoglycan components of exostose cartilage extract with increased growth activity with signs of uniform and uneven bone formation revealed a 510-fold increase in the content of hyaluronic acid, a change in the ratio of chondroitin 4 sulfate: chondroitin 6 sulfate (85:15% with a norm of 50:50%), embryonic ratio of binding proteins . These changes are characteristic of processes occurring with intensive cell growth.

Exostoses transformed into secondary chondroma. They are characterized by a rapid clinical course. The deformation of the affected part of the skeleton reaches its maximum severity in a short time. In some cases, there is a change in the vascular pattern of the skin, which simulates the transformation of exostosis into secondary chondrosarcoma. A very informative symptom of the transformation of exostosis into a secondary chondroma is a sharp discrepancy between its clinical and radiological dimensions, indicating rapid growth of the cartilage cover. For exostoses with increased growth activity and signs of uneven bone formation, this discrepancy is less pronounced. The X-ray contours of exostosis, when transformed into a secondary chondroma, acquire a coarsely wavy character, the structure of the formation becomes uneven, which is due to the presence of multiple speckled and spotted inclusions against the background of individual thickened, sparsely located trabeculae and small areas of clearing.

All of the above options for the evolution of exostoses are characteristic of childhood. In adults, exostoses generally stop growing. Unlike children, the growth of exostosis in adults is always considered as a symptom of its transformation into a secondary chondroma. Malignancy of exostosis in children was not encountered in our observations, although they are described in the literature without morphological evidence. The transformation of exostosis in children into secondary chondroma always proceeds very rapidly and resembles the course of a malignant tumor. Morphological examination reveals a picture of transformation of exostosis into secondary chondroma in all patients.

The mechanism of formation of bone deformation in MECD is different. In unpaired bones, deformations mainly develop due to the growth of exostosis itself. Very rarely, due to uneven growth of the growth zone, secondary deformations develop in the form of curvature or shortening of the segment. In paired bones, in addition to deformations of this kind, secondary deformations also occur due to the pressure of exostosis on the growth zone of the adjacent bone and the adjacent bone itself.

• Cranoclavicular dysplasia

Cranioclavical dysplasia (CCD) has been known for a long time. The most characteristic changes are observed in the skull and collarbones, which is reflected in the name of the disease. It is diagnosed at birth. In children, there is asymmetry of the skull; the facial part is underdeveloped. The face is round, with wide-set eyes. The fontanelles are sharply enlarged. The anterior fontanel separates the frontal bone into two parts at the front and connects with the posterior fontanel at the back. In some cases, a soft skull is observed. Radiologically, in children, the skull remains soft tissue for a long time, with only isolated islands of ossification. Defects persist in the sutures for a long time, and multiple additional Wormian bones are visible. The fontanel closes late, sometimes it is not completely closed in adult patients. After ossification of the anterior fontanelle, a transverse groove remains in the middle of the frontal bone. Delayed and imperfect development of both primary and permanent teeth is very typical. Milk teeth can persist up to 25-30 years of age, and therefore the patient may have an excessive number of teeth.

• Volkoff's disease

At birth, attention is drawn to the presence of age spots, small lipomas, and an increase in the length of the legs and feet. In the process of growth, by the age of 7 years of life, a typical picture of Volkoff's disease is formed: gigantism of one or more limbs, a sharp increase in the volume of joints on the affected side. The legs are predominantly affected; the arms and hands are involved in the process only in combination with changes in the segments of the legs. Limb lengthening at birth progresses with growth. Flexion contractures develop in the joints (usually in the knee), stiffness, and, over time, ankylosis in a vicious position. Lesions of the hip and ankle joints occur only in combination with the knee. The foot is elongated by 78 cm compared to a healthy one due to excessive growth of the metatarsal bones and toes; its volume exceeds normal by 1.5 2 times. The hand lesion is characterized by gigantism of the fingers with loss of movement in the interphalangeal joints, and curvature of the fingers is noted. Along the sutures of the skull there are dense ridge-like growths, the same on the superciliary arches and lower jaw.

• Distal growth plate dysplasiaradius (Madelung's disease)

During the growth process, due to premature synostosis of the palmar part of the distal growth zone of the radius, its distal end shifts to the palmar side, and the head of the ulna protrudes towards the rear. The distal radioulnar ligament is stretched, causing the head of the ulna to shift to the palmar side when pressure is applied and the “key” symptom returns. Dorsal extension of the hand is limited, as is ulnar abduction, and radial deviation of the hand is formed. Torsion of the distal beam is possible.

Since the mechanism of deformation formation in Madelung's disease is the same as in other local physeal dysplasias, the X-ray picture of the disease has similar signs. The growth zone synostoses first on its palmar part, and then completely. The epiphysis is triangular in shape with signs of agenesis along the palmar-ulnar part. The articular platform of the radius is inclined towards the palmar and ulnar sides, which creates the impression of subluxation of the lunate bone.

The duration of the disease from onset to complete synostosis of the radicular cartilage is 3-4 years.

Symptoms of Congenital skeletal malformations. Dysplasia

• Spondyloepiphyseal dysplasia

This disease is diagnosed in most cases after the child develops joint pain and deformities of the lower extremities. Such children aged 1 - 2 years walk swaying. They are less mobile than their peers and quickly get tired when walking. X-rays of the hip joints show a very small size of the ossification nucleus of the femoral heads.

At the age of 3-6 years, some patients may experience intermittent pain in the joints of the lower extremities. Movement in them is usually free, and only in some cases there may be slight pain during rotational movements in the hip joint. However, it is not possible to establish a diagnosis based on such a clinical picture. Therefore, the main role in the diagnosis of EDS is given to x-ray examination. X-rays show changes in the epiphyses of all tubular bones, but most clearly in the femurs and tibia bones: the epiphyses are thickened and mushroom-shaped. In the area of ​​the knee joints, smoothing of the intercondylar elevations of the tibia and expansion of the intercondylar fossa of the femur and lobular patella are noted. All vertebral bodies are flattened to one degree or another, more so in the thoracic region.

In children over 8 years of age, the load on the lower extremities gradually increases and in the most loaded joints (hip) changes in the epiphyses progress and the first clinical signs of early deforming arthrosis appear. Initially, pain occurs when walking, and then at rest. A characteristic sign of incipient arthrosis is that the child, after resting, immediately cannot walk and takes the first steps with great difficulty. Movements in these joints are initially little changed, but gradually the limitation of movements increases. Deformations gradually appear: dislocation of the patella, genu valgum, contractures in the hip and knee joints, which give secondary deformations (pelvic distortion, curvature of the spine, etc.). Radiologically, the flattening of the articular surfaces of the epiphyses increases, sharpening of their marginal sections and some narrowing of the joint space appear.

Acute arthritis occurs in 30% of patients aged 8-13 years. In this case, clinically, very sharp pain appears in one of the hip joints; children do not allow them to touch their legs. The limb assumes a forced position (usually flexion and adduction). Active movements are almost absent, passive movements are sharply limited and very painful. Some patients may experience an increase in body temperature (up to 37.5-38 °C). X-ray manifestations of arthritis are accompanied by an increase in ostheoporosis, which is gradually accompanied by the disappearance of clear contours of the articular surfaces of the bones; The narrowing of the joint space progresses. X-ray changes on both sides are usually different. This process often ends with ankylosis of the hip joint in a vicious position.

• Pseudoachondroplasia

Despite the fact that the clinical signs of PAH are the same in all patients, significant differences are observed in the severity of their manifestation. Some patients are dwarfs with very short and deformed limbs, others are short, but not dwarfs, and their limbs are less short. X-ray signs are also variable in severity, but the essence of the changes is the same.

• Diastrophic dysplasia

This disease is clinically diagnosed from birth. At the first examination, shortened limbs and deformation of their distal parts are visible. From the first days of life, contractures in the elbow joints are noted. The hands are small and often deviated to the ulnar side. The fingers are underdeveloped and lack flexion at the interphalangeal joints (usually between the proximal and middle phalanges) and often at the metacarpophalangeal joints. The torso is initially unchanged. There are flexion-adduction contractures in the hip joints, and flexion ones in the knee joints. The feet are deformed, both equinovarus deformity and forefoot adduction occur. Deformations are usually symmetrical.

In the first months of life, a characteristic symptom is inflammation of the ears. It begins acutely, hyperemia and edema appear, local temperature rises, and fluctuations are observed. After 3-4 weeks, the inflammatory process subsides, but thickening and deformation of the auricle remain. Sometimes you can see ossification of the deformed cartilage of the auricle. Usually the upper parts of the outer ear are deformed, and the process is often bilateral.

Already in the first year of life, curvature of the spine appears, which quickly progresses. Contractures in the joints also increase. Despite the fact that extension contractures in the fingers cannot be developed, the function of the hand is almost not affected. This is explained by the fact that there is hypermobility of the first finger and good flexion of the distal phalanges of the other four fingers.

If a child begins to walk, the lumbar lordosis increases and the axis of the lower extremities (genu valgum) is disrupted. Many patients, if untreated, do not walk, but only crawl.

The epiphyses of the long tubular bones are radiologically changed: they are significantly flattened. Dislocations and subluxations of the femoral heads are observed in the hip joints. In the knee joints, subluxations of the lower leg are observed outward and posteriorly. Deformation of the distal epiphyses of the tibia and tarsus bones (especially the talus) often leads to subluxation of the foot. In the elbow joints, subluxation and dislocation of the bones of the forearm are noted posteriorly and to the ulnar side. In the wrist joint, underdevelopment of the distal end of the ulna leads to the formation of clubhand. The wrist bones are underdeveloped and deformed. The first metacarpal bone has a round or triangular shape. There are secondary changes in the spine as a result of its curvature.

Mild forms of DD, which were described by L. Langer in 1967 as a “diastrophic variant,” are much more difficult to diagnose. These children are not dwarfs, and they may not have joint contractures or scoliosis, but they do have extension contractures in one or more finger joints, forefoot adduction is common, and there may be subluxations in the joints. X-ray changes are of the same nature as in the severe form, but to a much lesser extent. These patients at the age of 9-10 years may experience severe arthrosis of the hip joints, which leads to their severe stiffness, often in a vicious position. The clinical picture of arthrosis is the same as with EDS.

• Congenital spondyloepiphyseal dysplasia

The description of this disease in people of different age groups and especially comparative data from the study of sick parents and their sick children are of great importance for differential diagnosis. Sometimes such an analysis makes it possible to isolate VSED from collected groups of unclassified systemic diseases. Thus, in patients in early childhood it has to be differentiated from achondroplasia, and in adult patients it is very difficult to establish a diagnosis due to mixed damage to the epimetaphyseal zones, and the study of the disease in the family, in children and adults, in in this case can provide invaluable assistance.

• Metatropic dysplasia

Infants have a long, narrow body and short limbs with thickened joints. In some patients, a double fold of skin resembling a tail is noticeable under the sacrum. These children often die from secondary respiratory failure. Usually those children whose kyphoscoliosis progresses rapidly survive. Because of this, the physique changes: the torso shortens, the limbs no longer look short. When a child begins to walk, the body leans forward and the head leans back slightly. In large joints there is limited mobility, and in the joints of the hands and feet, on the contrary, there is hypermobility. The hands and feet are short. Intelligence is normal.

Characteristic changes in the pelvis: the iliac bones are shortened, the diameter of the entrance to the small pelvis is expanded. The acetabulum is formed. The heads of the femurs are very small, with unclear contours, the necks are shortened and widened. The intertrochanteric region is wide, with a large lesser trochanter, which seems to “flow down” downwards. The disease is inherited, apparently, in an autosomal recessive manner.

• Dyggwe-Melchior-Clausen dysplasia

This disease is characterized by dwarfism. The face is unchanged, the neck is short, the body is shortened, scoliosis is always noted. The chest is deformed (the sternum protrudes). Increased lumbar lordosis. There may be limited extension in the elbow joints. The hands are small and soft when bent. Sometimes there is a violation of the axis of the lower extremities, both valgus and varus. The feet are spread out, and their valgus deformity is often visible.

Most patients have mental retardation. Radiologically, platyspondyly is noted, the iliac bones are short and wide, with hypoplasia of the base, the iliac crests are uneven, lace-like. The appearance of the proximal end of the femur is characteristic. During childhood, the growth plate is located horizontally. The medial part of the neck protrudes in the form of a spur; ossification of the epiphyses of the femur is delayed. There is shortening of the tubular bones with asymmetrical ossification of the epiphyses and metaphyses.

• Epiphyseal punctate chondrodysplasia

Rhizomelic HT is characterized by severe rhizomelic shortening of the limbs. Neonatal respiratory diseases are a characteristic feature of this form, and most patients die in infancy. A rare but less severe form of the disease, Conradie-Hünnerman TX, is not lethal and is therefore more common in the practice of pediatric orthopedists and pediatricians. This autosomal dominant disease is characterized by pronounced intrafamilial variability and is characterized by shortening of the limbs, which, however, is not rhizomelic in nature and is most often asymmetrical.

For Conradi-Hünnerman TC in the first year of life, the pathognomonic symptom is asymmetrical pinpoint ossifications located near flat bones, in the area of ​​the distal and proximal ends of long tubular bones and the spine. By the end of the first year of life, they disappear, and deformed epiphyses develop in these places. This disease has significant variability in expressivity. In severe forms, mortality is observed in early childhood. In mild forms, the diagnosis cannot be established without presenting the first radiographs. The intermediate form is more common. At the age of 2-3 years characteristic features are short stature, kyphoscoliosis and asymmetrical shortening of the limbs, a specific face: flat, eyes widely spaced. Hair grows poorly, is thinner, there is partial alopecia (in 30% of cases), cataracts develop in 20% of cases. Kyphoscoliosis appears in the first year of life and progresses rapidly. The X-ray of the spine shows asymmetrically deformed vertebrae. Early-onset kyphoscoliosis causes a sharp deformation of the chest and shortening of the torso. Asymmetrical shortening of the limbs, contractures in the joints and disruption of the axis of the limb (usually the lower limbs) are of varying degrees. Radiographs show deformation of the epiphyses, usually those in areas where there were pinpoint ossifications.

X-linked recessive TX is very similar to Conradi-Hünnerman TX, however, the shortening of the limbs is not accompanied by asymmetry, but is not rhizomelic in nature. Significant mental retardation of patients is noted. The presence of a sex-linked variant of HT can be considered proven based on the fact that in many families HT can be traced only in men and has a path of “transmission” of the disease characteristic of this type of inheritance. Skeletal changes in men in these families are much less pronounced than in the other two forms of HT. In recent years, based on data from modern cellular pathology, a new group of diseases has been identified, the so-called organelle diseases, which include peroxisomal diseases. The role of peroxisomes as cellular organelles in various metabolic processes is known. It has been shown that peroxisomal diseases include the rhizomelic form of TX, in which a defect in plasmalogen biosynthesis and phytanic acid oxidation is detected, i.e., peroxisome assembly is impaired. On this basis, an attempt was made to prenatally diagnose rhizomelic TC; in one of 4 pregnancy cases it was successful. The obtained biochemical parameters corresponded to the changes characteristic of postnatal fibroblasts from patients with rhizomelic TC.

• Metaphyseal chondrodysplasia

• • Jansen type. Is the most severe. Very rare. All authors, when describing the clinical and radiological picture of the disease, refer to the first classic observation by M. Yansen (1934). The appearance of the patient is so characteristic that if the doctor sees such a patient once, then the next time he will not have to differentiate this disease from others. The physique of such patients is disproportionate, there is growth retardation, and the skull is towering. The eyes are widely spaced, exophthalmos is sometimes observed, the bridge of the nose is wide and flattened, the lower jaw is underdeveloped, and there is an abnormal bite. The posture is stooped, the shoulders are turned forward and seem to be pulled together by the collarbones. The chest is cone-shaped, with a prominent sternum. The limbs are somewhat shortened, curved, the joints are increased in volume, there is a varus curvature of the elbow joints, hands with thick fingers in the form of drumsticks. There are flexion contractures in the hip and knee joints, saber-shaped shins, and flatvalgus feet. As a result of such deformations, children walk on bent legs; the body is tilted forward, the arms hang in front, often reaching the knees and below. Flexion contractures make the patient want to squat.

X-ray changes are similar in all large joints: uneven ossification of the metaphyses is determined over a significant extent, foci of bone tissue defect against the background of an altered structure of the metaphyses. The growth zones are sharply expanded, the contours of the epiphyses and metaphyses are uneven from the side of the growth cartilaginous plate. Long tubular bones are shortened and curved. As the patient grows, the bone structure is restored, but deformities remain. The spine is not changed. The disease is inherited in an autosomal dominant manner.

• • Smidt type. It is inherited in an autosomal dominant manner and is characterized by a slight or moderate decrease in growth, deformation of the lower extremities (genu varum). The first signs of the disease often appear in the second year of life (sometimes earlier): growth retardation, “duck-like” gait and increased lumbar lordosis. As the child grows, the shortening of the lower extremities progresses and varus deformity of the lower leg and varus position of the feet appear, which are formed due to the predominant growth of the fibula. The face is usually unchanged; protruding frontal bones are sometimes described. Intelligence is normal.

X-ray examination reveals disturbances in the ossification of the metaphyses that are the same as in the Jansen type, but they are moderate and more pronounced in the internal sections. The contours of the metaphyses are uneven from the side of the growth plate. In this case, the contours of the epiphyses, unlike those with the Jansen type, remain intact. The long tubular bones are shortened and slightly curved. There are also no changes in the spine. Coxa vara and genu varum are noted.

• • McKusick type (cartilaginous hypoplasia). Inherited in an autosomal recessive manner. This disease causes growth retardation in the postnatal period with noticeable shortening and thickening of the hands and loose joints of the hands. Patients experience ectodermal dysplasia, which manifests itself in the fact that they have thin, short, sparse and blond hair, the diameter of which is significantly reduced compared to the norm. Eyebrows and eyelashes are also affected. A pronounced sensitivity to severe infection (for example, such as chickenpox, which can be fatal for such patients) is most likely due to deficiencies in cellular immunity. This is expressed in chronic neutropenia, lymphopenia with delayed rejection of skin allografts. Vaccination against smallpox can be fatal. Radiological changes are similar to those in Smidt type MCD.

Other forms of MCD include Ollier's disease. The essence of the disease lies in the slow and perverted ossification of cartilage. According to S. A. Reinberg (1964), the proliferation of enchondral cartilage probably occurs quite normally, but further phases of calcification and ossification of the developing cartilage do not occur during bone growth in length, and therefore non-ossified cartilaginous masses remain in the metadiaphyses of long tubular bones. Almost any bone of secondary ossification (passing through the cartilaginous stage) can be affected. This explains the diversity in the distribution of cartilaginous foci, both single and multiple. The time of onset of the disease is variable: from 2 to 10 years. The clinical picture can manifest itself in shortening of the limbs, which sometimes reaches large sizes (up to 20-30 cm).

If there is a lesion of the lower limb, lameness is clinically observed, and the axis of the limb (genu varum or valgum) may be disrupted. On examination, thickening of the metaphyses is noted. Damage to one of the paired bones can lead to limited movement in the joints. When the upper limb is affected, a characteristic deformity is ulnar or radial deviation of the hand. Damage to the hand can lead to severe deformation of the fingers. When the cortical layer becomes thin, pathological fractures occur with minor trauma. Ollier's disease is sometimes combined with multiple hemangiomas, other tumors, and sometimes with exostoses. X-ray: the affected long tubular bones are shortened, the metaphyses are expanded, swollen, and there are foci of clearing of various shapes. At puberty, cartilage tissue in the lesions is replaced by bone. Although there is no definite evidence for the mode of inheritance of Ollier dyschondroplasia, several familial cases have been described. V. Mc Kusick believes that perhaps Ollier's dyschondroplasia is inherited in an autosomal dominant manner with incomplete penetrance.

• • Another group

MHD Pyle's disease, frontometaphyseal dysplasia and craniometaphyseal dysplasia is characterized by high growth of patients, disproportionate physique due to elongation of the limbs and expansion of the metaphyses of long tubular bones. The latter symptom is most pronounced in the bones that form the knee joint. Differential diagnosis between them is based on the difference in the nature of changes in the knee and hip joints and skull bones. With frontometaphyseal dysplasia, due to severe sclerosis of the base of the skull, symptoms of compression of the cranial nerves develop (decreased vision and hearing, facial paralysis, etc.). The face of patients with Pyle's disease is not changed, but in other forms changes from minor to the development of a “lion face” are observed.

• Multiple exostotic chondrodysplasia

The clinical picture of MECD is characterized by pronounced polymorphism, due to the different nature of bone damage by exostoses and the activity of their growth.

• Cranoclavicular dysplasia

One of the main signs is underdevelopment of the collarbones: their partial or complete absence. The lesion is often bilateral and asymmetrical. Complete absence of the collarbones is rare, occurring in 10% of cases. In this case, there is a narrow chest with drooping shoulder girdles (sometimes the chest is funnel-shaped), the shoulder blades are underdeveloped, wing-shaped. The shoulder joints are sharply contoured. Sometimes underdevelopment of the pectoralis major muscle occurs. This condition is characterized by unusual mobility in the shoulder joints; the child can bring the shoulders together until they touch. If the clavicle consists of two fragments, then their pathological mobility is observed. The sternal end is longer, and its lateral edge is rounded; due to muscular traction, it is raised upward and anteriorly; the acromial end is also rounded and directed downward and posteriorly. The clavicle may consist of one fragment; more often the acromial end is missing.

In the pelvic bones, defects of ossification of the pubic and ischial bones of varying lengths are noted; the medial parts of these bones are often absent, which is why there is an expansion of the pubic symphysis. The femoral heads are large, rounded, the acetabulum is often small. Impaired ossification also manifests itself in the spine. The radiograph shows non-fusion of the arches of one or more vertebrae; any part of the spine can be affected and in any combination. There are additional ossification nuclei in the transverse processes of the vertebrae, in the metacarpal and metatarsal bones.

Some patients develop pain in the groin area and lameness as they grow. Movement in the hip joint can be limited and painful. X-ray shows coxa vara (more often the lesion is bilateral).

Hip dislocation is rare with PCI, but hip dislocation occurs. Its clinical picture is similar to congenital dislocation of the hip (in the first days of life, a symptom of slipping is detected). Hip dislocation during PCI is difficult to treat and must be diagnosed in the first days of life.

• Spondylocostal dysostosis

The clinical picture depends on the level of localization of vertebral deformity and the number of synostotic ribs. Moreover, with symmetrical deformation of the vertebrae and ribs, the spinal axis suffers little, but if these lesions are asymmetrical, then the deformation of the spine and chest can be sharply expressed. Thus, with asymmetrical damage to the cervical and upper thoracic spine, a tilt of the head (asymmetry of the face) and asymmetry of the shoulder girdles are observed. When the thoracic spine is affected, scoliosis of varying degrees is observed, and when the lumbar spine is affected, a deviation of the body to the side may be observed. Movements in the spine also depend on the degree of its damage. With a total lesion, movements in the spine may be completely absent; with smaller changes, limited movements of varying degrees are observed. An x-ray of the spine shows all possible malformations of the vertebrae: wedge-shaped, butterfly-shaped, partial and complete blocks. The number of ribs is not the same on both sides. Synostosis usually occurs in the posterior regions of the ribs and in various combinations.

• Fibrous osteodysplasia

Clinically, the disease manifests itself as damage to one (monostotic form) or many (polyostotic form) skeletal bones.

The monoosseous form of FOD is asymptomatic until a pathological fracture or until the appearance of pain and lameness when localized at the proximal end of the femur.

Of much greater interest is the polyostotic form, in which the endocrine and central nervous systems are involved in the pathological process.

Clinically, the polyostotic form of FOD at birth is manifested by the presence of coffee-colored pigment spots on the skin of the trunk, buttocks, and thighs. 4050% of girls aged 2 months to 10 years experience bleeding from the vagina, which is regarded as “precocious puberty.” With the beginning of walking, a slight lameness appears, and then pain in the lower extremities. The diagnosis of FOD is confirmed by radiography. The femur, tibia, humerus, pelvic bones and skull bones are most often affected. Thus, the multiplicity of skeletal lesions, skin pigment spots, and premature puberty are reliable signs of the polyostotic form of FOD. They are called Albright's syndrome.

As a sick child grows, characteristic skeletal deformations form. On the skull, this is bone “leontiasis” (asymmetrical bilateral protrusion of the upper jaws, asymmetry of the palpebral fissures, hypertelorism, saddle nose).

The proximal ends of the thighs are curved like breeches, and there are valgus deformities in the distal parts of the thighs. The lower leg has a valgus curvature along its entire length, and there is recurvation in the knee joints.

Deformations of the upper limbs, ribs, and pelvis are possible. When the process is extremely severe, children lose the ability to move.

• Volkoff's disease

The skin is changed: vascular and pigment spots on the affected side on the limbs and torso, multiple lipomas on the abdomen and chest, pronounced hyperkeratosis of the skin of the perineum, axillary fossae, feet, where it is presented in the form of grape-shaped growths.

Patients with a late form of the disease may experience epileptiform seizures, headaches, and other symptoms of compression of the brain and spinal cord.

The X-ray picture of Volkoff's disease is quite characteristic. The epiphyses of the bones are significantly flattened, the articular surfaces have uneven fringed contours. The bone structure of the epiphyses and metaphyses is sparse and rearranged according to the coarse trabecular type. The growth zone is unevenly expanded and in adolescent patients does not tend to narrow or close. In the joint cavity, intra-articular bodies are irregular in shape and with clear contours, of various sizes, located isolated or in conglomerates. Small bodies resemble ossifications, large ones have a coarse trabecular structure. In the bones of the skull there are comb-like growths of bone density with pronounced external and intracranial components. The upper cervical vertebrae may also be affected. When angiography is performed on the affected side, the following is noted: the vessels have an uneven lumen, their contours are uneven, and vascularization is increased. Lymphography reveals an increase in regional lymph nodes on the affected side.

Clinical manifestations of the disease depend on the location of intra-articular cartilage growth. When the talus and distal epiphysis of the tibia are affected, the first symptoms are pain during movement and cartilage density, swelling somewhat posterior and medial to the medial malleolus. As the child grows, the symptoms of arthrosis increase along with the formation of foot valgus and heel pronation. When localized in the knee joint, a valgus or varus deviation of the tibia is formed, “blockade” of the joint and pain are common. If the head of the femur is damaged, a contracture of the joint is formed; where the process is localized in the radius, ulnar deviation of the hand develops.

• Osteopoikilia

Osteopoikilia is usually asymptomatic. When combined with dermatofibrosis, the disease is detected quickly.

Radiologically it manifests itself in the form of separate, clear foci of rounded bone compaction in the metaphyses and vertebrae. In some cases, foci of enostosis are linear.

• Diaphyseal dysplasia

Clinically, the disease is manifested by exhaustion of children, muscle weakness, unsteady gait, pain in the limbs and back. Later in adolescence, joint contractures form.

Radiologically, the disease is manifested by a 2-fold thickening of the bone diaphysis due to thickening of the cortical layer of the bone. The diaphyses are usually affected, but the process may involve the ribs, base of the skull, and vertebrae.

• Larsen syndrome

The disease is recognized by its characteristic senaclinical symptoms: multiple dislocations in large joints, cylindrical fingers, a flat face with a depressed nasal bridge, and a convex forehead. Dislocations in large joints are recognized at birth, and clubfoot is then diagnosed. The disease can be combined with heart disease, hydrocephalus, hydronephrosis, and a diaphragmatic hernia is possible.

X-rays are used to diagnose dislocations of the legs, anomalies of the carpal and metatarsal bones. The bodies of the cervical vertebrae are flattened; there may be nonfusion of their arches and kyphosis.

• Femoral neck dysplasia

X-ray diagnosis does not cause difficulties: the physeal growth plate is located vertically and expanded, its edges are uneven, with areas of uneven sclerosis. The neck of the femur is shortened, the neck is straight and transforms into an acute one with growth. The head of the femur is in the socket, the greater trochanter becomes hook-shaped and is located above the upper edge of the acetabulum.

The development of the disease leads to limited abduction of the hip, its shortening, and the development of coxarthrosis.

• Multiple epiphyseal dysplasia

The clinical picture of MED in childhood is manifested mainly by complaints of pain in the joints of the lower extremities and fatigue. Pain appears at the age of 4-5 years, and sometimes earlier. Children with MED are of normal height and correct physique; They usually do not have skeletal deformities. At an older age, pain in the knee joints intensifies, and movement in them may be limited.

• Acetabular dysplasia

The disease is characterized by bilateral protrusion of the acetabulum. It is based on a violation of chondrogenesis in the Y-shaped cartilage, due to which, under the influence of loads, inferior cartilage with low strength qualities cannot hold three pelvic bones in one node. They gradually diverge, and the head of the femur sinks deep into the socket, forming the Ottachrobak pelvis. A characteristic deformation of the pelvis leads to a narrowing of the birth canal. This is important in gynecology, especially since the disease occurs only in women.

• Humeral neck dysplasia

In the clinical picture of the disease, limited shoulder abduction, atrophy of the deltoid muscle, and moderate shortening of the shoulder are noted.

X-ray reveals that the proximal growth zone of the humerus changes from horizontal to vertical. The epiphyseal angle reaches 50-60° (normal 140°). The humeral head seems to slide along the growth zone onto the surgical neck of the humerus, where thinning of the diaphysis occurs due to the displaced head.

Diagnosis of congenital skeletal malformations. Dysplasia

• Multiple epiphyseal dysplasia

The diagnosis of MED is also made radiologically. On radiographs, the epiphyses are not flattened, as in EDS, but reduced in size, especially in diameter. Their base is shorter than the area of ​​the epiphyseal cartilage, which is especially noticeable in the area of ​​the hip and knee joints. The spine may not be changed or there may be changes in it that resemble Seyermann's disease - May. In some patients over 10-11 years of age, when walking, pain appears in the groin area or in the knee joint, and passive movements in the hip joint on this side are somewhat limited and painful. X-rays of the hip joints reveal fragmentation of the femoral head. This condition dramatically complicates the course of the disease. The femoral head recovers very slowly and sometimes does not return to normal. These patients develop early arthrosis of the hip joints.

S. Ribbing described a form of MED in which the epiphyses were flattened and the spine was affected in a large Scandinavian family. It was unclear whether the type of MED described by S. Ribbing and the type described by T. Fairbank are independent entities or are variants of the same disease. The data obtained give reason to believe that the two forms of MED described by some authors (Fairbank type and Ribbing type) are one disease (Fairbank-Ribbing MED) with variable expressiveness of clinical manifestations. Statistical analysis identified a clinical subgroup of MED, reflecting the existence of a severe recessive variant with early aseptic necrosis of the femoral heads. A clear clinical picture of epiphyseal dysplasia develops by the 7-8th year of life and at this age is quite easily diagnosed, but in the early stages of the disease it is difficult to establish a correct diagnosis. Typically, these patients are diagnosed with diseases that are more common in orthopedic practice. In cases where the clinical picture is pronounced, one form of epiphyseal dysplasia should be distinguished from another. The initial manifestations of these diseases can be very similar: a swaying gait, fatigue, lameness, but complaints of leg pain appear earlier in children with MED. At older ages, growth begins to lag in children with EDS, whereas growth in MED is usually normal. Movements in the joints are more severely and earlier limited in EDS. The axis of the lower extremities with MED is often correct, sometimes there is a slight valgus deformity, and with EDS there are often contractures and deformities of the lower extremities, and dislocation of the patella. The X-ray picture helps to more accurately differentiate these two diseases.

• Metatropic dysplasia

X-ray examination reveals a delay in ossification of the epiphyses, carpal bones and vertebral bodies. There is severe platyspondyly with tongue-shaped deformation of the vertebrae. The long tubular bones are shortened, with asymmetrically enlarged metaphyses, resembling dumbbells. The epiphyses are deformed, flattened, and asymmetrical. The short tubular bones are wide, their epiphyses are also asymmetrical. Over the years, the metaphyses become normal, the metacarpal bones remain short, looking like stumps. Platyspondyly decreases.

• Knista dysplasia

X-ray shows a sharp delay in ossification of the femoral heads (they appear after 5-6 years of age or later). The pelvic bones are shortened and widened, the entrance to the small pelvis is triangular in shape, and the acetabulum is small. The femoral necks are not differentiated; the proximal end of the femur has the appearance of a club-shaped thickening. The metaphyses of the tubular bones are expanded, the epiphyses are flattened and asymmetrical. There is platyspondyly, the intervertebral discs are narrow, the contours of the vertebrae are uneven and wavy. The C tooth is large and wide. But upon deeper study, a big difference is visible in both the clinical and radiological picture.

• Achondroplasia

The diagnosis of AC is usually made clinically; X-ray examination only confirms it. A pathognomonic radiological sign is a narrowing of the distance between the pedicles of the lumbar vertebral arches in the caudal direction. In addition, deployed and shortened wings of the ilium are noted, the roofs of the acetabulum are horizontal, the transverse size of the entrance to the small pelvis exceeds its depth. The tubular bones are shortened, their metaphyseal sections are thickened and cup-shaped.

• Volkoff's disease

Morphological examination reveals thickening of the bones forming the joint. The joint cavity is filled with cartilage tissue in the form of a shapeless conglomerate. It comes from the cartilaginous cover of the joint and, located along the epiphysis, is circularly connected to the growth zone. Synovial membrane of cartilaginous density. Microscopically, cartilaginous growths are represented by articular hyaline cartilage. In its thickness there are dystrophic acellular areas and vessels. Growing cartilaginous plates of uneven thickness with numerous outgrowths and areas of degeneration.

• Hemimelic epiphyseal dysplasia

X-ray GED is characterized by an enlargement of part of the epiphysis, there are many different sizes of compactions and clearings in it, the contours of the enlarged part of the epiphysis are clear.

Histological studies confirmed the dysplastic nature of the process, manifested in a delay in the formation of the subchondral bone plate and the continuation of bone formation based on the growth zone of the articular cartilage. Excessively developing cartilage is transformed into an osteochondral formation.

Treatment of Congenital skeletal malformations. Dysplasia

Due to the fact that the main molecular-biochemical defect for most OCD has not been established, etiopathogenetic treatment for these diseases does not yet exist. Therefore the only possible thing is symptomatic treatment. Since OCD are systemic diseases of connective tissue, they often also involve extraskeletal changes, which should be promptly addressed. Therefore, most patients with OCD require observation and treatment by many specialists (cardiologists, neurologists, pediatricians, ophthalmologists, etc.). An important role belongs to orthopedic treatment - both conservative and surgical.

Conservative treatment for OCD should be applied from the moment of diagnosis.

Conservative treatment can go in three directions:

• preventive treatment;
• correction of deformities;
• treatment of associated complications.

Preventative treatment

Preventive measures are effective only with early detection of OCD and consist in creating conditions for the child during growth that make it possible to slow down the pathological process.

In the first year of life, treatment should be aimed at preventing the development of deformities or their progression. In the first months of a child’s life with OCD, general muscle hypotonia, incorrect position of the head and/or torso, slight deformity of the spine and contractures of the joints of the extremities may be observed. If muscles are weak, from the first days of life it is necessary to create conditions under which the child can make more active movements. To do this, you need to put a romper on the baby and not swaddle him. Swimming strengthens muscles well. Starting from 2 months of age, the child should undergo repeated courses of general massage and constant therapeutic exercises. These procedures have a beneficial effect on muscle trophism and help increase their strength. Therapeutic gymnastics consists of passive and active movements. Passive movements maintain joint mobility. To obtain active movements in the first days of a child’s life, it is necessary to use reflex movements. So, to force the child to straighten his legs with force, you can use the crawling reflex. To do this, the child is placed on his stomach, his legs are bent at the hip and knee joints (frog pose), and his palm is placed on his feet. In this case, the child rests his feet on the hand, straightens his legs and crawls forward. All these exercises are included in the complex for practicing with a healthy child.

Subsequently, you can use gaming techniques: give the toy so that the child reaches for it with either his right or left hand; make him turn over first one way or the other; lying on your stomach, bend your torso first to the right, then to the left, etc.

In AH, in addition to general hypotension, there is looseness of the knee joints due to shortening of the femur and the convergence of the attachment points of the thigh muscles. Therefore, special attention is paid to strengthening these muscles.

A child should not be placed in pillows or taught to walk while holding hands. Such haste leads to deformation of the skeleton. After 6-7 months of life, it is better to put children on the floor and give them the opportunity to do everything they can. The child sits down and stands up only if he has sufficiently strong muscles.

For existing deformities, all therapeutic measures should be aimed at preventing their progression. If the body position is incorrect or there is a visible deformation of the spine, children should be kept in beds with a flat mattress that does not sag under the weight of the child.

With kyphosis in the thoracolumbar spine, children in the first months of life should be placed on their stomach more often and taught to sleep in this position. Lying on his stomach, the child tries to raise his head. These movements strengthen the back muscles. At an older age, the child begins to pull his legs under his body and tries to kneel, while the spine bends forward, which to some extent evens out the kyphosis. If the head position is incorrect (tilting to one side), it is recommended to place the child in a symmetrical position, placing heavy bolsters on the sides of the head (from the shoulder girdle upwards). When a child has a tilt of the head and a bend of the body that cannot be corrected by laying it with bolsters, it is necessary to make a plaster crib with the head held in a position that can be corrected. In addition, these children are recommended to undergo repeated courses of asymmetrical massage, therapeutic exercises, and swimming. During active gymnastics, it is necessary to force the child to turn in the opposite direction from his usual position. To do this, you can call him or place a toy on the side of the convexity of the curvature. After the child begins to sit down on his own, it is necessary to limit sitting as much as possible, and when this is not possible, he must be seated on a chair with a straight, high, firm back and tied to the chair so that the child does not lean forward or sideways. To do this, you need to sew a bra that secures the entire chest; Straps are sewn to the sides of the bra, which tie the child’s torso to the back of the chair.

In patients with a progressive course of the disease, preventive measures include a gentle regimen, prohibition of long walking, physical education and sports. Swimming, skiing and cycling on flat terrain are permitted.

Sanatorium treatment relieves pain, if any; general state improves, the child becomes more mobile. With repeated courses of sanatorium treatment, children retain mobility in the joints for a long time, contractures in the joints do not form or progress, and the progression of limb deformities in the area of ​​the epiphyses slows down. In between courses of sanatorium treatment, exercise therapy, repeated courses of massage, and swimming are indicated.

Correction of skeletal deformities. With OCD, a large number of different deformations are observed. However, you should not try to correct every deformity.

Contractures in the elbow joints in OCD due to subluxation of the radial head usually do not respond to conservative treatment, but in the vast majority of cases they do not affect the function of the limb.

Club hand is quite easily corrected with the help of exercise therapy and the application of removable splints, which give the hand a middle position. Splints can be made from gypsum or polymer materials.

Spinal deformities, as a rule, cannot be corrected.

The greatest difficulties are presented by pathological changes in the hip joints. It must be taken into account that dislocation and subluxation of the hip in DD cannot be treated. It is usually not possible to correct a dislocation in this disease, and persistent and long-term treatment can lead to severe contractures and even greater deformation of the femoral head.

In VSED, high-standing proximal ends of the femurs are mistaken for hip dislocation due to sharp coxa vara, despite the fact that the acetabulum is well developed on the pelvic radiograph. They try to straighten the “dislocated” hip - first with splints, and sometimes simultaneously under anesthesia. This treatment results in a sharp progression of coxa vara, and the appearance of the ossification nuclei of the femoral head is further delayed. In order to avoid mistakes, you must be very careful when examining the child, and if a disproportion of the physique is detected, very carefully study the x-ray of the hip joints. If it is impossible to exclude a dislocation, then before starting treatment, contrast arthrography should be performed, which will help establish the correct diagnosis and not cause harm to the child.

Foot deformities due to OCD are treated with staged plaster casts. The exception is clubfoot in DD, as it is difficult to correct. In this case, it is necessary to start treatment from the first days of the child’s life. The treatment method is somewhat different from that for ordinary congenital clubfoot. A plaster cast is applied to the lower limb from the middle third of the thigh to the end of the fingers, but since patients have flexion contractures in the knee joints, when applying the plaster they try to straighten the limb as much as possible. When moving the foot out of a vicious position, the varus position is mainly corrected. At the same time, they try to align the equinus position, but one should not try to completely remove the foot from this position, since it is difficult to correct, and if the foot is forced out of the equinus position, a recurrence of varus deformity may occur. After the foot is moved out of the varus position and the flexion contracture in the knee joint is somewhat corrected, children are given polyvik splints up to the upper third of the thigh, with a heel. In splints, the child begins to learn to walk. Only with this disease do we recommend teaching children to walk, since they may not begin to walk at all, and our task is to give them the opportunity to move on their feet.

In some diseases (TC, Ollier's disease, etc.), asymmetric shortening of the lower extremities is observed. In these cases, it is necessary to equalize the length of the limbs. To do this, shoes on a shortened leg are “knocked”, while the front part and the heel are knocked separately in order to maintain the roll of the foot when walking. The shortening is not fully compensated, since otherwise the valgus curvature may progress. Usually, the difference in limb length is left at 0.5 cm. These children require constant monitoring, since in the first years of life the child grows quickly and the difference in limb length can change quickly.

Treatment of associated complications. Such complications include early arthrosis, acute arthritis and aseptic necrosis of the femoral head.

Early arthrosis is observed in children with severe joint deformation or when a gentle regimen is not observed. At the very beginning of the disease, rest and thermal procedures temporarily relieve pain, but due to the heavy load on the joint, they can recur. These patients are recommended for sanatorium-resort treatment, therapeutic exercises (can be done in water), and massage. Repeated courses of sanatorium-resort treatment (mud therapy, brine baths, massage, swimming, restorative treatment, etc.) delay the development of arthrosis. If left untreated, in most cases, arthrosis deformans progresses rapidly, causing an increase in contractures. The pain symptom becomes more intense and constant.

Treatment of arthritis in EDS and DD is very difficult. For ordinary arthritis, the joint is immobilized to relieve pain. Taking into account the peculiarities of the course of these arthritis, in the acute period, bed rest, slight movements in the joint (preferably in water at a temperature of 36-37°C), and painkillers are recommended. When the pain is relieved, physiotherapeutic treatment is carried out. The most effective are paraffin-ozokerite applications followed by electrophoresis of humisol.

Paraffin-ozokerite applications are applied to the affected joint (sometimes to both) at a temperature of 40-42°C. The procedures are performed daily or every other day (depending on the age and individual tolerance of the procedure to the patient). In total, up to 20 procedures are recommended for a course of treatment. Immediately after the procedure, the patient receives electrophoresis of humisol on the same joint, which is performed every other day (on the day of paraffin-ozokerite applications), also up to 20 procedures per course of treatment. Humisol can be administered from both poles. The complex of treatment measures includes injections of vitamin B12.

Aseptic necrosis of the femoral head in NSHS can be observed in MED, MPS and other diseases. Treatment is the same as for Perthes disease, but without immobilizing the joint. Unloading of the joint must be carried out until the femoral head can be restored.

Surgery diastrophic dysplasia. Surgical treatment of DD is extremely difficult, which is explained by the prevalence and severity of deformities and their steady progression.

The primary task of the surgeon is to draw up a program of multi-stage conservative and surgical treatment, the ultimate goal of which is to enable the child to move without outside support, at least with the help of crutches.

At the first stage, tissues are prepared for the intervention. The feet are corrected using staged plaster casts, eliminating varus and equinus deformities. At the same time, massage the muscles of the thighs and gluteal muscles.

The second stage is the actual surgical treatment according to the scheme developed at the CITO. It is based on intensive surgical treatment in a short time followed by long-term rehabilitation treatment.

The first operation is performed on the femoral segment. Subspinal myotomy is performed. The bone is crossed at the level of the lesser trochanter, and a wedge is selected from the proximal fragment with its base posterior and outward. The fragments are compared, eliminating flexion and adduction of the hip. If the muscle tension is strong, the femur is shortened or its proximal metaphysis is inserted like a spyglass. Osteosynthesis is performed with an extraosseous plate or an intraosseous Bogdanov nail, which is preferable, since the next osteotomy is performed in the supracondylar region of the femur to eliminate severe flexion contracture. In cases of mild contracture, osteotomy is performed according to Repka; in cases of severe contracture, metaplasia is performed according to Vreden. The operation is completed with plastic surgery of soft tissues according to Roux-Friedland-Volkov with the aim of open reduction of the dislocated patella or its fragmented rudiments. Thus, in one stage the vicious position in the hip and knee joints is corrected.

Correction of equinovarus foot deformity is carried out 3-4 weeks after hip surgery. The Zatsepin operation is performed, supplemented, if necessary, with an economical crescent resection of the foot. Immobilization with a plaster cast for 2 months. Then restorative treatment is carried out.

Surgical treatment of deformities on the other leg is planned similarly. The full cycle of intensive treatment lasts 5-6 months. In case of hip dislocation, only extra-articular operations are permissible.

Rehabilitation of the patient is complemented by the production of splints or lightweight orthopedic devices, orthopedic shoes. The patient is subject to long-term observation by an orthopedist.

The prognosis for the life of patients with DD is favorable.

Surgical treatment of spondyloepimetaphyseal dysplasia. For congenital spondyloepimetaphyseal dysplasia, the indications for surgery are adductor flexion contractures of the hip joints, high hip dislocations in combination with varus deformity of the neck and deformity of the hip joint.

Attempts at closed and open reduction of dislocations end in failure. Extra-articular operations are indicated: intertrochanteric osteotomies. The proximal end of the distal fragment of the femur is shifted 1-1.5 cm inward and the femur is retracted, forming an angle open outward and posteriorly at the level of the osteotomy. In the corrected position, metal osteosynthesis is performed using a bone plate. In adolescents, after osteosynthesis with the Nuzhdin-Trotsenko plate, plaster immobilization is not performed. In young children, a plaster cast is applied until fusion in the osteotomy area.

The load on the operated joint is allowed after movements have been developed. Due to the progression of arthrosis in people after 20-30 years of age, the need for endoprosthetics arises.

In patients with late spondylometaphyseal dysplasia (Kozlovsky type), indications for surgical treatment arise only when valgus deformities of the knee joint progress. Corrective osteotomies are performed according to Repka with fixation of fragments with knitting needles and plaster bandages.

For Kniest dysplasia, operations on the hip joints are performed only in adolescence, as a rule, with severe coxarthrosis with pain. More often, indications for surgery arise for clubfoot. A Zatsepin operation is performed followed by the prescription of orthopedic shoes.

Patients with metatropic dysplasia and Dyggwe-Melchior-Clausen disease are generally not operated on, the former due to respiratory failure, the latter due to mental retardation.

Surgical treatment of spondyloepiphyseal dysplasia. Surgical treatment of children with EDS, carried out in high school and adolescence, makes it possible to radically help the patient. The purpose of surgical interventions is to relieve children from pain, increase range of motion and improve the supporting function of the limbs.

Indications for surgery: flexion contractures of the hip and knee joints, dislocations of the patellas, coxarthrosis and gonarthrosis.

Flexion contractures of the hip joints are the first sign of coxarthrosis. When contracture increases, if it is not yet accompanied by a distinct pain syndrome, i.e., before the age of 10-12 years, decompression of the joint is performed by myotomy of the adductor muscles of the thigh, subspinal myotomy, and also cutting off the attachment site on the lesser trochanter of the iliopsoas muscle. In cases where the contracture is not completely eliminated, an intertrochanteric osteotomy is performed with fixation of the fragments with knitting needles, straight plates, or biopolymer clamps. The operation is performed in stages or in one stage on both sides. A plaster cast with a pelvic girdle is applied to both legs. After the cast is removed (3 weeks after soft tissue operations and 6 weeks after osteotomy), the position of the legs apart is maintained with a Vilensky splint. They prescribe classes in the pool, walking only on crutches, and exercise therapy. 4-6 months after surgery, the load on the joints is increased, but overload should be avoided.

As the child grows, contractures recur and progress, and pain in the joints appears and increases. During this period of disease development, reconstructive surgery on the proximal femur is indicated due to the progression of coxarthrosis.

The operation technique is as follows. With the patient in the lateral position, the outer surface of the femur is exposed from the top of the greater trochanter downwards using an external Langenbeck approach 12-15 cm long. Marks are made on the outer surface of the bone. At the base of the lesser trochanter, the bone is transversely osteotomized. A wedge is selected from the proximal fragment with the base outward, 2 cm high and 1-1.5 cm posterior, depending on the severity of the flexion contracture. Then osteosynthesis is performed using the Trotsenko-Nuzhdin fixator. The operation, if indicated, is complemented by myotomy of the adductor muscles and hip flexors. The leg is placed on a splint. Movements in the joint begin on the 6th-7th day. Walking on crutches is allowed after 2-3 weeks; dosed load - after 2 months and full load - 5-6 months after osteotomy. After the patient has been rehabilitated, a similar operation is performed on the other side.

Changes in the shape of the epiphyses and defective articular cartilage inevitably lead to progression of the process, and in adolescence or young age, movements in the hip joint stop. Coxarthrosis of III-IV degree develops. In these cases, total hip replacement becomes the operation of choice.

The knee joint ranks second in the frequency of clinical manifestations of EDS. These are flexion contractures that form either independently or in combination with contractures of the hip joints. In a significant percentage of cases they are caused by dislocation of the patella. In this case, the operation of choice is open reduction of the dislocation according to Roux-Friedland-Volkov.

The operation technique is as follows. A skin incision is made along the outer surface of the thigh from its upper third downwards along the outer surface of the knee joint, rounding to the tibial tuberosity. After dissecting the fascia, the rectus femoris muscle is isolated from its upper third to its attachment to the patella. The vastus lateralis muscle is cut off at the point where it transitions into a tendon sprain. The knee joint is bent and the cut portion of the quadriceps muscle is sutured to the outer surface of the rectus muscle. WITH inside the rectus muscle is sutured to the vastus medialis muscle. The attachment point of the patellar ligament is cut off together with a bone fragment and fixed with Mylar threads 1-2 cm downwards and inwards. Make sure that the patella does not dislocate when bending the tibia.

Immobilization of the limb with a plaster cast is carried out for 3 weeks. At this time, isometric tension of the thigh muscles is prescribed, and electrical stimulation of the rectus and vastus medialis muscles is performed. After removing the plaster cast, functional treatment is carried out. Physiotherapeutic procedures (paraffin applications on the knee joint), massage of the inner thigh are prescribed. Weight-bearing on the operated leg is possible after 6 weeks, and full movement is restored 6 weeks after surgery.

Congenital dislocation of the patella can be combined with valgus deviation of the tibia due to hypoplasia of the lateral femoral condyle. Under these conditions, the Roux-Friedland-Volkov operation may be ineffective and must be combined with simultaneous correction of bone deformity. From an external approach made for soft tissue surgery, the bone is freed from the periosteum in a limited area and transversely transected at the base of the condyles. By rotating the distal fragment inwards by 8-10°, a position is achieved such that the medial and lateral condyles of the femur with their anterior surface are located in the one plane. The achieved position is fixed with knitting needles, and in adolescents - with a bone plate. Movements in the joint are prescribed if there are signs of fusion.

The prognosis for EDS is favorable for life, but the patient must be under the supervision of an orthopedist all his life. Rational employment of the patient and the fight against excess body weight are especially important.

Surgical treatment of multiple epiphyseal dysplasia. Surgical interventions for MED are indicated for the development of deformity in the knee joint area, dislocation of the patellas, coxarthrosis and gonarthrosis.

In case of curvature, an osteotomy is performed in the supracondylar region of the femur or in the subcondylar region of the tibia. Osteotomy according to Repka is more often practiced. Considering the tendency to ankylosis when fixed with a plaster cast, osteosynthesis with external fixation devices is advisable. For the same reason, during surgery on the proximal end of the femur, it is necessary to use the Nuzhdin-Trotsenko plate for osteosynthesis.

Patellar dislocation in patients with MED may be accompanied by its fragmentation, which causes patellofemoral arthrosis. Therefore, it is advisable to combine the Roux-Friedland-Volkov operation with resection of the patella in the frontal plane with covering of the sawdust with local tissues.

The steady progression of arthrosis leads to the need for hip and knee replacement at a young age.

Surgical treatment of pseudoachondroplasia. Orthopedic surgeries for groin disorders are aimed at correcting deformities of the lower extremities, combating arthrosis of the hip and knee joints, and correcting short stature.

Deformity of the legs is corrected by subcondylar or supramalleolar osteotomy. Fixation of bone fragments is carried out using devices for transosseous osteosynthesis. Intervention on both legs in one stage significantly speeds up the rehabilitation process for patients.

Flexion contractures in the hip joint are eliminated by intertrochanteric osteotomy with external metal osteosynthesis, contractures of the knee joint by supracondylar osteotomy.

Interventions aimed at correcting short stature require special care. Indications for lengthening leg segments are limited by the presence of severe deformation of the epiphyses of the bones, especially in the hip joint. Only minor extensions are permissible in case of asymmetry in leg length.

Surgical treatment of Volkoff's disease. At the initial stages, treatment is conservative: orthopedic shoes are prescribed on the healthy leg in order to compensate for the patient’s excess growth. As a preventive measure, preventive epiphysiodesis of the fingers and toes is possible. If the leg is significantly lengthened, the joint is sanitized by removing cartilaginous growths along with the patella, followed by restorative treatment. In case of cartilaginous ankylosis of the joint in combination with sharp lengthening, resection of the knee joint followed by compression arthrodesis is indicated. In the case when movements in the joint are preserved, segmental resection of the bones of the leg or femur is performed, followed by osteosynthesis with one of the external fixation devices. In case of severe damage to the knee, ankle joints, foot with severe trophic disorders, leg amputation followed by prosthetics is indicated. Growths on the bones of the skull, if they have a cosmetic defect, are removed. If cerebral symptoms increase, the patient should be treated by neurosurgeons.

The prognosis for life with damage to the skull bones is unfavorable or questionable. The disease ultimately leads to ankylosis of the affected joints.

Surgical treatment of hemimelic epiphyseal dysplasia. Surgeries should be performed in the early stages, before secondary deformities and arthrosis develop. An arthrotomy is performed, osteochondral growths are removed, and the epiphysis is carefully modeled.

Rehabilitation treatment begins 1-2 days after surgery. Physical therapy is carried out, and orthopedic shoes are prescribed if indicated.

As a rule, GED recurs. In case of relapse, a similar operation is performed in the early stages. It is preferable to carry out 4-5 economical resections without massive damage to the articular cartilage than radical operations with resection of the epiphysis bone, which always leads to severe arthrosis. With the development of segment deformity, a corrective osteotomy is performed; with severe arthrosis in adolescents, arthrodesis is performed.

Surgical treatment of dyschondroplasia. The range of surgical orthopedic treatments for dyschondroplasia is extremely wide and depends on the location and extent of bone lesions, the age of the patient, the severity of deformity and shortening of limb segments, etc.

Indications for surgery are the growth of cartilage tissue, deforming the bone and adjacent joint; deformation and shortening of a limb segment or several segments; threat of malignancy or malignancy of cartilaginous nodes.

Orthopedists are more likely to encounter dyschondroplasia in the case of damage to the metacarpal bones and phalanges of the fingers and toes. Surgical treatment for this localization is indicated for thickening of the phalanges and metacarpal bones before the development of secondary curvatures and tumor-like growths that disfigure the hand and reduce its functionality.

A staged marginal resection of the metacarpal bones and phalanges of the fingers is performed with the removal of foci of cartilaginous tissue. The resulting defects are filled with allografts. In case of relapses, the operations are repeated. This approach provides a good cosmetic result and full preservation of the function of the fingers. A similar principle is used when localizing cartilaginous nodes in the scapula and ilium, where bone resection within healthy tissue is combined with bone grafting.

Multiple deformities of the limbs with their shortening are caused by damage to the proximal and distal metaphyses, as well as the diaphysis. It is clear that it is impossible to remove all foci of embryonic cartilage due to their large number. Therefore, most orthopedic operations for dyschondroplasia are palliative in nature.

If the humerus is damaged, accompanied by its shortening and deformation, a closed correction is performed at the age of 8-10 years by applying an Ilizarov apparatus, taking into account the curvature. Closed correction is also combined with compactotomy or osteotomy through the pathological focus at the apex of the curvature. Distraction corrects deformity and compensates for shortening.

If there is a curvature in children over 10 years of age, as well as in patients with recurrent deformities, marginal bone resection is performed. The pathological tissue is then removed, the humeral axis is corrected, and the defect is filled with long cortical grafts. The Ilizarov apparatus is applied so that the proximal wires pass through the grafts, and the distal wires pass outside them. During the process of distraction in the apparatus, the distal fragment shifts along, and the formation of the regenerate sharply accelerates.

When cartilage lesions are localized in the bones of the forearm, the treatment principle is the same as when localized on the shoulder. An Ilizarov apparatus is used, in which the affected radius or ulna is lengthened by traction of the distal fragment of the bone after its osteotomy. Shortening can also be corrected using a rod apparatus.

Correction of curvatures and deformities of the femurs is carried out in the same way as for curvatures of other etiologies. Ilizarov and rod apparatuses are used.

Correction of deformities and shortening of the legs is carried out using the Volkov-Oganesyan and Ilizarov apparatuses. A combination of compression-distraction osteosynthesis with bone grafting is possible.

The peculiarity of dyschondroplasia is that relapses of shortening and deformation always develop and staged surgical treatment should be completed by the time the patient’s natural growth stops.

Dyschondroplasia- a disease in which individual nodes or several foci are capable of becoming malignant at once or sequentially. Malignancy is manifested by pain and rapid growth of one of the lesions. If there is a threat of malignancy, segmental bone resection is performed within healthy tissues, followed by bone grafting. This requires close monitoring of the patient throughout his life.

Surgical treatment of metaphyseal chondrodysplasia. Surgical treatment of MCD (Smidt, Jansen, McCuisick type, Pyle's disease, cranio- and frontometaphyseal dysplasia) is symptomatic. More often, corrective supracondylar and subcondylar osteotomies of the femur and tibia are performed. It should be taken into account that with metaphyseal dysplasias of the Smidt, Jansen and McKusick type, deformities are prone to recurrence and require repeated corrections. The most optimal period for performing corrective operations for metaphyseal dysplasia coincides with the time of onset of ossification of the metaphyses.

Surgical treatment of mesomelic dysplasia. Indications for surgical correction of deformities are often given for dyschondrosteosis. Corrections are required for curvatures of the forearms, reminiscent of those in Madelung's deformity, as well as for varus curvatures with shortening of the legs.

Correction of deformity of the forearm and wrist joint is carried out by osteotomy of the distal metaphysis of the radius with its lengthening in the Ilizarov apparatus. The treatment technique is the same as for Madelung's deformity. Correction of deformities and shortening of the tibia is carried out by osteotomy, followed by lengthening of the segment and correction of the axis of the tibia in an external fixation apparatus.

Correction of the shins with Nievergelt's dysplasia is more difficult, because it is combined with deformation of the epiphyses of the tibia, disruption of the shape and function of the ankle joint, and flat-valgus deformation of the feet. Such children undergo gentle osteotomies followed by transosseous osteosynthesis. Lengthening of the legs is not advisable in them, as well as in children with Robbinov's dysplasia.

Surgical treatment of mucopolysaccharidoses. Surgical treatment of lower extremity deformities is advisable only in children with preserved intelligence, i.e., with mucopolysaccharidosis type IV (Morquio syndrome).

Curvatures are corrected with subcondylar osteotomies. Operations are performed under exsanguination of the operated limb, as quickly as possible, without blood transfusions. Due to the tendency of deformities to recur in the postoperative period, a splint with a hinge is prescribed for the knee joint.

Surgical treatment of achondroplasia and hypochondroplasia. Surgical interventions for AC are aimed at correcting varus deformities of the legs and short stature.

Varus curvatures of the legs are corrected by subcondylar and supramalleolar osteotomies, using external fixation devices for osteosynthesis.

Leg lengthening with achondroplasia poses a number of problems for the orthopedist. When drawing up a long-term treatment program, it is necessary to clearly understand at what age of the child it is more rational to carry out intervention, from which segments to start lengthening, what technique to use, to know the advantages and disadvantages of all external fixation devices, to clearly know about possible local and general complications, to be able to predict the result and possible negative consequences in the long term after the end of treatment.

Lengthening the legs for a child represents a complex set of negative emotions caused by almost constant, although not intense, pain at the site of osteotomy and the insertion of wires, inconvenience in walking, self-care, and the development of a symptom complex of hospitalism. Only rare children under 10 years of age realize the need for lengthening; the majority of patients suffer from treatment. Therefore, 12 years seems to be the optimal period when leg lengthening should begin.

There are various schemes for lengthening leg segments: simultaneous symmetrical lengthening of segments, lengthening of two adjacent segments at the same time, etc. Experience dictates a differentiated approach to this problem.

In patients with a height of 135-138 cm completed at the age of 14-15 years, simultaneous lengthening of the hips is rational. In patients who are planning long-term multi-stage treatment, it is more rational to cross-lengthen according to the scheme: right thigh - left shin, then left thigh - right shin. In the interval between stages, the disproportion in the length of the segments with this scheme is little noticeable, and in the process of lengthening the patient better tolerates the presence of external fixation devices. Using this scheme, it is possible to increase height by 40-45 cm in 4-5 years, starting from the age of 10.

When lengthening the legs, it is more advisable to use the Volkov-Oganesyan, Ilizarov apparatus. Cross lengthening, especially in patients with hypertrophied muscle and fat layers, is easier to tolerate with a combination of: leg lengthening with the Volkov-Oganesyan or Ilizarov apparatus and thigh lengthening with a rod apparatus. With such a combination

Prevention of congenital skeletal malformations. Dysplasia

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Congenital systemic skeletal disease itself is rare, but is the main cause of dwarfism and various types of skeletal deformities. These include dysplasia, dysostosis, idiopathic osteolysis, chromosomal aberrations with skeletal underdevelopment and metabolic disorders that cause skeletal damage.

Terminology. The term "dwarfism" has been replaced by the term "dysplasia". Genetic dysplasia has clinical genetic and/or radiological characteristics. The name reflects the skeletal part involved in the process or some other features of the clinical picture of the disease. Characterized by dwarf stature, the disease is divided into conditions with a short body and short limbs; the latter are in turn divided into rhizomelia, mesomelia and acromelia. With dysplasia such as acromesomelia, both the middle and distal parts of the limbs are shortened. Other names for dysplasia of different parts of the skeleton reflect their specific x-ray picture or localization of the process. In case of primary damage to the skull, the prefix cranial is used, in case of severe damage - spondylo.

Diagnosis and assessment. In most cases, congenital dysplasia of the bone apparatus reveals a disproportionality in the length of the limbs and torso. Usually the patient's limbs are relatively short, which is noticeable even in congenital spondyloepiphyseal dysplasia and metatropic dysplasia, in which as the child grows, an obvious disproportion between the shortened trunk and limbs is revealed. If the difference in the length of the trunk and limbs is not clearly expressed, dysplasia is indicated by a disproportionately large head. Associated anomalies help make the correct diagnosis. In Kniest dysplasia, congenital spondyloepiphyseal dysplasia and Stickler arthroophthalmopathy, cleft palate is quite often observed; polydactyly is often combined with chondroectodermal dysplasia, asphyctic thoracic dysplasia and other syndromes characterized by short ribs and polydactyly.

Infants with short ribs and polydactyly, thanatotropic dysplasia, and lethal perinatal osteogenesis imperfecta die as a result of respiratory failure due to a small short chest.

Skeletal dysplasia is detected in children of any age. The most common reason for parents to visit a doctor is the disproportionately short height of the child due to either relatively short limbs or torso in combination with kyphosis or scoliosis. With spotted chondrodysplasia, hemimelic epiphyseal dysplasia and multiple cartilaginous exostoses, asymmetrical growth of the limbs is often noted. The clinical picture can be determined by reduced skeletal bone density, for example, with osteogenesis imperfecta syndromes, or their increased density, hematological or neurological complications, for example, with hyperostotic skeletal dysplasia.

The tactics for these disorders of skeletal development are the same regardless of the time of visiting a doctor. To establish the true nature of the disease, a thorough analysis of the course of pregnancy, peri- and postnatal development of the child, as well as family history data should be carried out. During a physical examination, they evaluate the symmetry and proportionality of the patient’s physique and try to identify concomitant malformations of the skeleton and other organs and systems: measure height, length of the upper and lower segments of the body, arm span, head and chest circumference; data from periodic measurements are recorded and plotted on appropriate growth charts. For patients with achondropathic dysplasia or other diseases, special growth charts have been developed. Determining the BC/HC ratio and arm span/height helps to make the correct diagnosis. For example, a higher than normal BC/HC ratio is characteristic of brachyskelia, while a decrease in the BC/HC ratio occurs with a short body, for example, with spondyloepiphyseal dysplasia.

When carrying out differential diagnosis of skeletal dysplasia, it is necessary to have a patient. Serial radiological examination is required to diagnose some conditions and evaluate complications specific to each type of dysplasia.

When consulting children, it may be necessary to conduct a full range of skeletal examinations, namely anterior-posterior, lateral and survey radiography of the skull, anterior-posterior and lateral of the spine and anteroposterior of the pelvic bones and limbs, separately of the hands and feet. X-ray of the feet in the lateral projection is of great importance for identifying areas of ossification of the calcaneus and identifying hypoplasia of the calcaneus and talus in epiphyseal dysplasia.

For some diseases, the diagnosis is made on the basis of an x-ray picture, while for others, serial x-ray examination or revision of x-ray images by experienced specialists is necessary to clarify it. In some countries, there are special skeletal dysplasia registries for these purposes.

Pathological signs. With different types of dysplasia, especially with fatal diseases of newborns, specific histological and ultrastructural changes are detected. During the autopsy, it is necessary, if possible, to select for examination material from the costochondral joint and the growth plates of the iliac crest and long bones such as the femur, tibia, or fibula.

The greatest diagnostic value is an intravital biopsy of the rib or iliac crest. The optimal solution is a trephine biopsy of the iliac crest. Appropriate studies make it possible to differentiate fairly similar conditions, but in some dysplasias only nonspecific histopathological changes are detected. In such cases, pathological examination allows us to exclude other diseases.

Biochemical research methods. In patients with severe congenital hypophosphatasia, serum alkaline phosphatase decreases and the level of phosphorylethylamine in the urine increases. In cultured fibroblasts, the activity of bone and liver isoenzymes of alkaline phosphatase is studied. Characteristic of lysosomal storage diseases.

Certain skeletal dysplasias are characterized by impaired immunity, neurological disorders, impaired renal function, cardiovascular system, decreased vision, hearing and speech function. These complications should be promptly and actively diagnosed during the initial examination and follow-up should be carried out throughout the patient’s life.

Treatment. For effective treatment you need:

1) accurate diagnosis,

2) rapid identification of specific complications from the musculoskeletal system and other organs and systems,

3) specific orthopedic correction and rehabilitation,

4) psycho-emotional support and social recommendations and advice,

5) genetic counseling.

There is no specific treatment for these conditions. Growth hormone is not indicated for short stature caused by dysplasia. The effectiveness of androgenic hormones is questionable, but there are observations on the use of Ocean Drolon.

Orthopedic correction is aimed at achieving maximum mobility and eliminating deformities; the consequence of their untimely correction may be the development of osteoarthritis with subsequent formation of false joints. Early diagnosis of spinal deformity and its timely correction using immobilization or minimal surgical intervention can reduce the likelihood of long-term complications.

With such patients it is necessary to carry out intensive explanatory work for a long time and often; they need emotional support and recommendations. Some community organizations provide emotional support and an appropriate environment in which people with dwarfism can better adjust to life.

During pregnancy planning or after pregnancy, examination of a woman sometimes reveals various pathologies, including dysplasia.

The doctor may not diagnose early dysplasia, the disease does not manifest itself in any way, and does not make adjustments to the intimate intimacy of partners. Pregnancy can occur against the background of dysplasia, but during the period of planning the unborn child, you should undergo an examination, cure possible hidden diseases, avoiding complications during pregnancy. There are a number of types of dysplasia during pregnancy.

The presence of dysplasia detected during a woman’s pregnancy will not affect the course of pregnancy or the health of the baby. If the probability of carrying out healthy child, you should not have surgery to remove dysplasia, there is a high possibility of infection of the fetus, miscarriages, and the risk of intrauterine fetal death.

It is important to carry out a cytological examination in time during pregnancy and, based on the results obtained, discuss further treatment with your doctor. If the picture is positive, you should not agree to colposcopy; acetic acid is used during the study; unnecessary intervention in the body of a pregnant woman is, at a minimum, inappropriate. It is better to refuse a biopsy; the procedure is performed in case of urgent need.

It is advisable to treat dysplasia before pregnancy; in severe cases of the disease, part of the cervix is ​​removed. For conceiving and bearing a child, the fact does not matter. Childbirth occurs naturally with any degree of dysplasia, in the absence of other contraindications.

Dysplasia during pregnancy, detected in the cervix, must be cured in a timely manner, preventing the chance of degenerating into a malignant tumor. Dysplasia represents a change in the cells of the epithelium, the layer that forms the cervix. Three degrees are known. Mild degree – easy to treat, but you should not delay the process. C will easily pass into the middle layer, where the deep layers of the epithelium are affected. Then a severe stage occurs, where a consultation with a gynecologist-oncologist will be required, and it is possible to remove part of the cervix.

Causes of the syndrome, methods of treatment

Causes of dysplasia in women aged 15 to 45 years who are active sex life, are elementary. Premature onset of sexual activity, periodic active change of partners, possible infections and diseases acquired through sexual contact. This includes the lack of a healthy and sports lifestyle, smoking. Long-term use of hormonal oral contraceptives or COCs, possible hormonal disorders in the body of a woman of any childbearing age. The cause of dysplasia is the presence of the human papilloma virus, a weakening of the immune system during pregnancy or stressful experiences.

Cervical dysplasia occurs without symptoms, but the appearance of discharge with a characteristic color should alert the woman. The only way to identify the disease is to undergo an annual examination by a gynecologist and undergo a cytology test. When planning a pregnancy, you must first cure the disease, then prepare for happy motherhood.

The attending physician will prescribe medication and, at the same time, prescribe therapy for concomitant infectious diseases. If there is no positive dynamics in treatment, the doctor will recommend surgical intervention. There are a number of known methods for removing affected epithelial cells. Eg:

• Cryodestruction is the effect of low temperatures strictly on the affected areas of tissue.
• Laser vaporization – laser removal of damaged cells; a side effect of the intervention is tissue burns.
• Excision, or biopsy, is the removal of the affected area with an electric knife.
• Electrical excision, or cauterization with electric current, during the operation, rough scars are formed that do not allow the cervix to fully open during delivery.
• Radio wave coagulation using high frequency current.
• Argon plasma coagulation, a non-contact method of tissue removal, a clear effect of argon on the depth of the lesion. The method does not leave scars on the tissue.
• Amputation of the cervix. The operation is possible in two ways: knife or ultrasound.

During pregnancy, it is better to refuse treatment and return to the disease after the birth of the long-awaited miracle.

Carrying out the operation during the period of planning a child will reduce the risk of abnormalities during pregnancy. It is permissible to try to get pregnant 2-3 months after the operation; the attending physician is called upon to monitor the condition of the cervix.

During pregnancy, with folic acid deficiency, many women develop cellular pathology in smears. You will need to undergo a course of treatment with folates, and in a couple of weeks be examined again, cellular changes should return to normal, DNA synthesis will stabilize.

Cervical dysplasia shows a reversible process, it is important to monitor your health and seek timely treatment medical care. A woman's health is important for the future of children.

Mesenchymal dysplasia of the placenta

During pregnancy, during a routine ultrasound examination, an ultrasound specialist is able to detect an enlarged placenta that does not correspond to the degree of development of the calendar or obstetric period of pregnancy.

After receiving the results of the ultrasound examination, you need to urgently visit a doctor monitoring the pregnancy. The doctor may suggest taking tests or conducting additional examinations. An enlarged placenta is dangerous for the fetus and is diagnosed as a disease - mesenchymal dysplasia of the placenta.

Causes of dysplasia

The functioning of the placenta in a pregnant woman may fail. With a thorough clinical examination and histological examination, it becomes possible to identify the formation of complications in the mother and perinatal abnormalities in the fetus. The condition of the placenta in pregnant women with forms of mesenchymal dysplasia is characterized by immaturity of the villi, signs of infection of the placenta in pregnant women, combined with low placenta previa in the uterine cavity. The consequence of a violation of the structure of the placenta is insufficient development of the fetus, including slow growth.

The causes of mesenchymal dysplasia of the placenta are not fully understood; most practitioners assume the presence of congenital pathologies of the mother. , found in the expectant father, can affect the development of the joint fetus. When an egg is fertilized by a sperm with the pathology of dysplasia, part of the DNA is transferred to the unborn child, and accordingly, diseases are inherited.

Complications of pregnancy when diagnosing mesenchymal dysplasia

The disease can be diagnosed using ultrasound; hydatidiform mole has similar signs. You will need to do a control ultrasound examination in two weeks and confirm or refute the presence of mesenchymal dysplasia syndrome. After confirmation of the syndrome, the pregnant woman is admitted to the hospital, the woman faces various threats and the degree of their development associated with the unfavorable course of pregnancy:

Scrupulous monitoring of pregnancy, the general condition of the mother, control of fetal development become the main points after a careful study of the pregnant woman’s tests for the purpose of early diagnosis of various pathologies and advance planning of the method of delivery. If there is a disease, doctors often allow natural childbirth, with stable indicators of the mother and fetus, constant monitoring of the cervix. Local anesthesia is used during childbirth.

Mesenchymal dysplasia of the placenta represents the growth of placental tissues several times longer than the gestational age. Such an anomaly will lead to disruption of blood flow to the fetus, causing chronic fetal hypoxia. The disease cannot be treated.

With the birth of the child, the placenta will be removed, and the new pregnancy will proceed without complications. In the event of a favorable outcome of delivery, the disease will not affect the child in any way, unless connective tissue dysplasia is transmitted at the genetic level.

It is possible to plan a subsequent pregnancy within 1.5-2 years from the moment of successful birth. Dysplasia during pregnancy can be detected in the early stages and is carefully monitored throughout pregnancy.

EDS is based on a defect in the development of articular cartilage. This defect extends to both the long bones and the spine. The clinical picture of EDS is quite variable and in all cases manifests itself as the child grows.

Characteristic for all patients are short stature, fatigue, and pain in the lower extremities during exercise.

• Multiple epiphyseal dysplasia

MED is often called Fairbank's disease, who described the clinical and radiological picture in more detail and gave it its name. MED is based on a defect in the center of ossification of the epiphyses.

In this case, cartilage formation occurs normally, but ossification processes are disrupted.

• Pseudoachondroplasia

groin stands apart among diseases affecting the epiphyses and is accompanied by severe dwarfism with shortened limbs, which for a long time did not allow it to be distinguished from the group of diseases united by the term “achondroplasia.” On the other hand, multiple lesions of the epiphyses and spine gave reason to consider pseudoachondroplasia a form of epiphyseal dysplasia. The disease was described in 1959 by P. Maroteaux and M. Lamy under the name “pseudoachondroplastic spondyloepiphyseal dysplasia.” W. Ford et al. in 1961 they also described cases of dwarfism in which signs of epiphyseal dysplasia and achondroplasia were combined. The disease has been classified into two forms of epiphyseal dysplasia - the pseudoachondroplastic form of EDS and MED. Since 1969, according to the “Paris Nomenclature”, approved by the International Congress on Bone Dysplasias held in 1984, this disease has been called “pseudoachondroplasia”.

Children with groin syndrome are born without visible deformities. After 2-3 years of age, and sometimes even earlier, a “duck” gait, fatigue, or pain in the lower extremities appear. Quite early, parents notice growth retardation. The physique gradually changes: the limbs shorten, more at the expense of the proximal parts, contractures appear in the elbow joints, the child has difficulty raising his arms up. The hands become wide, the fingers become short and thick. There is hypermobility in the wrist joints and in the joints of the hand (the hand is soft when squeezed). The head and torso usually do not change, only the lumbar lordosis increases in the vertical position of the torso. The lower limbs are usually deformed. Both valgus and varus deformities are noted. In some cases, there is a genu valgum on one side and a genu varum on the other. If these deformities progress sharply, a secondary change in the skeleton occurs: pelvic distortion, spinal curvature, hip subluxation, subluxation in the knee and ankle joints. The feet of these patients are spread out, wide, and short. As in the hands, there is hypermobility of the joints of the feet.

Intelligence is always preserved. The cause of disability is early osteoarthritis of the hip and knee joints.

The X-ray picture for groin is very characteristic. The pelvis is wide, the diameter of the entrance to the small pelvis is widened. The roofs of the acetabulum are horizontal, their contours are uneven and fibrous. The heads of the femurs are very small, rounded, with an uneven mottled structure. The gap of the knee joint is widened, the epiphyses of the femur and tibia are small, round, also with a speckled structure along the periphery. The metaphyses are cup-shaped and widened with marginal defects. The fibula is relatively elongated. In the hands, the formation of ossification nuclei of the carpal bones is significantly delayed. The heads of the metacarpal bones are small. The phalanges of the fingers are shortened and expanded. The changes in the feet are similar. The vertebral bodies are oval in shape, there are deep defects in the area of ​​the apophyseal angles, the central part seems to be extended forward in the form of a beak. With age, the shape of the vertebrae is restored. The epiphyses of the tubular bones acquire a uniform structure; only their deformation and flattening are preserved.

• Diastrophic dysplasia

M. Lamy and P. Moroteaux in 1960 described a disease that was previously accepted as “an atypical form of achondroplasia with clubfoot.” The authors called this disease diastrophic dwarfism. The word “diastrophic” is derived from Greek, which translated into Russian means crooked, twisted." DD is based on a neuromesodermal defect in which the correct development of the epiphyses is disrupted. Although DD is accompanied by damage to the epiphyses and from this point of view is part of the group of epiphyseal dysplasias , it is at the same time a variant of dwarfism with shortened limbs. DD is one of the diseases in which dysplastic changes can be observed in bone and cartilage tissues, in the tissues of the joints, oral cavity and trachea. This disease, in addition to micromelia, is characterized by scoliotic deformation of the spine and chest , dislocations and subluxations in the joints of the limbs, flexion contractures and pronounced bilateral clubfoot, hitch-hiken deformity of the thumb, deformation of the ears and cleft palate. The existing point of view on the role of maternal infection in early pregnancy or the teratological effect associated with maternal intake of tetracyclines in the etiopathogenesis of DD is not shared by the vast majority of researchers who consider DD to be a generalized connective tissue disease. The classification place of diastrophic dysplasia has not been determined. This disease was classified by a number of authors as a group of dysostoses. Domestic authors described this disease under the name "epiphyseal dysostosis", taking into account the participation of various systems in the pathological process. However, an international conference on the classification of bone dysplasias, held in Paris in 1977, approved the status of dysplasias for the disease and the name “diastrophic dysplasia” instead of “diastrophic dwarfism.”

• Congenital spondyloepiphyseal dysplasia

Studying the clinical and radiological picture and issues of differential diagnosis of various forms of OCD, many authors paid attention to patients whose changes in the spine were similar to those in EDS, but were accompanied by completely unique damage to the joints. The X-ray picture of the hip joints was especially unusual. A similar form of hereditary systemic bone disease has been described under the name "Spondyloepiphyseal dysplasia congenita" (congenital spondyloepiphyseal dysplasia), taking into account the characteristic changes in the spine and flattening of the epiphyses of long tubular bones (mainly the femur), and the fact that the disease is detected at birth. Many authors have pointed out the difficulty of differential diagnosis of VEDS and the need to distinguish this form of dysplasia from true EDS and Morquio syndrome. A double difficulty is the need for simultaneous differential diagnosis between VEDS and other diseases of the group of disproportionate dwarfs. IVED is evident from birth, but the clinical presentation in infancy differs from the typical presentation in childhood. At birth, there is shortening of the limbs, a body of normal length with a large belly and a barrel-shaped chest. Movement in the joints is free, except for the hip, where there is a sharp limitation in hip abduction. In the first months of life, muscle hypotonia is observed. As the child grows, the rate of growth of the spine lags behind the rate of growth of the limbs and the disproportion of the physique changes: the torso shortens and the limbs become longer. Due to the very short neck, the head is thrown back and seems to “sit” on the body. A face with a characteristic sad expression. Sharp lumbar lordosis, “duck-like” gait. Patients quickly get tired and complain of pain in the legs, and later in the lower back. Radiologically, changes in the hip joints and spine are especially characteristic. An X-ray of the hip joints shows a delay in ossification of the head of the femur (sometimes up to 7-8 years), and when the ossification nuclei of the head begin to project, a pronounced coxa vara is visible; sometimes the femoral neck stands at an acute angle to the femur. Due to the pronounced coxa vara, on the radiograph in children, before the appearance of the ossification nuclei of the femoral heads, high-standing and outwardly displaced proximal ends of the femurs are visible, and, despite the fact that the acetabulum is always formed, this condition is often mistaken for congenital dislocation of the hip. Changes in the spine are expressed in a decrease in the height of the thoracic vertebral bodies, the gaps between the vertebrae are narrowed.

• Metatropic dysplasia

P. Marofeaux et al. described a disease that in the patient at birth is similar to achondroplasia (sharp shortening of the limbs), and in older children imitates Morquio syndrome (due to retardation of the spine, severe scoliosis). It is described in some detail by other authors under the name metatropic dysplasia. The disease manifests itself from birth.

• Knista dysplasia

The disease was described in 1952 in a child with unusual dwarfism and identified as a separate nosological unit, which is currently called “Knist dysplasia.” Previously, such patients were diagnosed with “metatropic dwarfism type II” and “pseudo-metatropic dwarfism.” These two diseases were combined because they have much in common. Thus, in infancy, shortening of the limbs and limitation of movements in them are noted. As the child grows, changes in the face are more clearly visible: it is flattened, with small eye sockets, and a flat bridge of the nose. These patients often have cleft palate, hearing loss, and myopia, which may be accompanied by retinal detachment. As the child grows, kyphoscoliosis may appear and lumbar lordosis increases. The joints of the limbs are enlarged, pain occurs when moving, and flexion contractures appear. Hands with long and knobby fingers, flexion in them is limited (especially in the metacarpophalangeal joints), which negatively affects the function of the hand. Patients usually have umbilical and inguinal hernias.

Development of motor functions and speech may be delayed, but intelligence is usually normal.

• Dyggwe-Melchior-Clausen dysplasia

In 1962, N. Dyggve, J. Melchior and J. Clausen described the disease in a family where 3 children born from a marriage between an uncle and niece were sick. The symptoms were reminiscent of Hurler and Morquio syndromes (Morkio pseudosyndrome). Dwarfism with mental retardation, radiologically pronounced platinum spondyly and specific changes in the iliac bones were determined. An increased level of glycosaminoglycans was found in the urine, and an increased content of metachromatic granules was found in peripheral blood leukocytes.

• Epiphyseal punctate chondrodysplasia

Point chondrodysplasia (TC) refers to a group of skeletal dysplasias, which are characterized by point calcification of the epiphyses both in the zones of the growth plates of all parts of the skeleton, and in the para-articular areas. TX includes at least three genetic forms of the disease: the most severe autosomal recessive rhizomelic form; a severe autosomal dominant form (Conradi-Hünnerman) and a relatively recently identified weaker X-linked recessive form.

• Mucopolysaccharidoses

MPS, by the nature of bone changes, are diseases with damage to the epiphyses, which explains the difficulties of their differential diagnosis with other epiphyseal dysplasias. The situation when the differential diagnosis of MPS is not sufficiently detailed leads to diagnostic errors when, on the basis of platyspondyly, flattening of the epiphyses of long tubular bones (without specifying the nature of these symptoms) and hyperexcretion of glycosaminoglycans in the urine, the disease is interpreted as MPS. The other extreme is that, based on the same skeletal changes, MPS (mainly with a Morquio-like phenotype) without taking into account other phenotypic manifestations is diagnosed as EDS or another disease of the group of dysplasias affecting the epiphyses. This leads to incorrect orthopedic treatment and false medical and genetic counseling. There is no doubt that to identify the true mechanisms of development of MPS, to develop pathogenetic methods for their treatment, molecular genetic approaches are needed.

It is important to establish a group diagnosis of MPS, isolate MPS from the general group of bone dysplasias and identify two fundamentally different clinical phenotypes: Hurler-like (including MPS IH, IS, II, III, VI, VII and multiple sulfatidosis) and Morquio-like (including MPS IV and VIII).

The clinical picture of MPS in the Hurler-like group is the same and differs mainly in the severity of the manifestation. Children are born normal, but then deformities gradually appear and increase. Children often suffer from respiratory diseases, they have chronic rhinitis and noisy breathing. Such patients are stunted4 in growth. They have a short neck, their shoulder blades are located higher than normal. Gradually, rough facial features (Hurler-like face) and contractures in the joints appear and progress. Initially, the upper limbs are affected: the fingers of the hands bend, the hands become wide, strong, and there is no extension in them. The gait changes due to contractures in the joints of the lower extremities (they walk on bent legs, often on tiptoes). Changes in orthopedic status are combined with extraskeletal changes/

Radiologically, the most characteristic changes are the pelvis, hip joints and hands. The pelvis is compressed from the sides, the femoral heads are small, flattened, coxa valga is present, and the necks of the femurs are thinned. In the hand, the appearance of ossification nuclei of the carpal bones is delayed, the metacarpal bones are short, wide, their proximal parts are narrowed, the phalanges of the fingers are wide, the distal phalanges are hypoplastic/

MPS III is the most severe. The first symptoms appear in the first months of a child’s life and progress quickly. There is a sharp decline in mental development. By 2-3 years, a typical clinical picture develops. But we must remember that MPS IH in the first year of life must be differentiated from congenital hypothyroidism.

Children with MPS III are often born with a larger birth weight and may have prolonged jaundice. Characterized by apathy, slowness, lack of appetite, constipation. Hernias may be observed. Such children have a puffy face, a large and often protruding tongue, a large belly, and dry skin. In the second half of life, it is easier to establish a diagnosis, since there is a lag in psychomotor development. Late closure of the fontanelle and delayed appearance of baby teeth are noted. Unfixed kyphosis and limited hip abduction may occur.

With MPS VI - Maroteau-Lami syndrome, the first signs of the disease appear after 2 years of age and by 7-9 years they become very characteristic. These patients reach 145-155 cm in height. The facial features are coarse, but not the same as in MPS IH or II, contractures in the joints are pronounced, children are “stiffened” when moving. It is characteristic of this type of MPS that the clinical picture is expressed quite sharply, but mental development never suffers. These two MPS phenotypes are accompanied by characteristic skeletal changes.

The clinical picture of Morquio-like MPS differs sharply from that of Hurler-like pathology. Patients are dwarfs, with a specific face and a short body. The first signs of the disease appear after 2 years of age and increase rapidly. The head is quite large, coarse facial features (hypertelorism, saddle-shaped bridge of the nose, protruding lower part of the face). The neck is short, the chest is keeled, and many have kyphosis. The shoulder blades are located high, the forearms are deformed, the hands are soft. Enlarged joints (wrist, knee and ankle). This is especially noticeable due to reduced nutrition. The lower limbs are curved (genu valgum), the feet are spread out. Children get tired quickly, their gait quickly deteriorates, and many stop walking.

Radiologically, the most characteristic changes are the pelvis, hip joints and hands. The pelvis is compressed from the sides, the femoral heads are small, flattened, coxa valga is present, and the necks of the femurs are thinned. In the hand, the appearance of ossification nuclei of the carpal bones is delayed, the metacarpal bones are short, wide, their proximal parts are narrowed, the phalanges of the fingers are wide, the distal phalanges are hypoplastic.

MPS IH is the most severe. The first symptoms appear in the first months of a child’s life and progress rapidly. There is a sharp decline in mental development. By 2-3 years, a typical clinical picture develops. But we must remember that MPS IH in the first year of life must be differentiated from congenital hypothyroidism.

Babies with MPS IH are often born with a larger birth weight and may have prolonged jaundice. Characterized by apathy, slowness, lack of appetite, constipation. Hernias may be observed. Such children have a puffy face, a large and often protruding tongue, a large belly, and dry skin. In the second half of life, it is easier to establish a diagnosis, since there is a lag in psychomotor development. Late closure of the fontanelle and delayed appearance of baby teeth are noted. Unfixed kyphosis and limited hip abduction may occur.

All ossification points detected radiographically appear with a significant delay, but the order of their occurrence is usual.

Early diagnosis of hypothyroidism is necessary to begin timely treatment, since children who receive treatment from the first 6 months of life can develop normally, which cannot be said about children for whom treatment is started late.

In terms of the pattern of bone changes, MPS II is similar to MPS IH. Boys always get sick, mostly with blond hair and dark thick eyebrows. This type of MPS is characterized by the disappearance of coordination of movements by 2-6 years (the child often falls), the behavior of children becomes uneven and sometimes aggressive. They do not eat solid food well. There is a nodular skin lesion between the shoulder blades. Corneal clouding is usually not observed. The facial features have a vaguely expressed Gurler-like character.

With MPS IS, the first symptoms appear late (at 3-6 years of age) and develop very slowly. The full clinical picture is revealed by the time of puberty. Corneal opacity is detected during adolescence and is often more pronounced in the periphery. Hepatosplenomegaly is rare. Typical for MPS IS is an aortic valve defect. Mental development is slightly reduced, and sometimes does not suffer. The severity of the damage to the osteoarticular system is the mildest of all MPS of the Hurler-like type.

With MPS VI - Maroteau-Lami syndrome, the first signs of the disease appear after 2 years of age and by 7-9 years they become very characteristic. These patients reach 145-155 cm in height. The facial features are rough, but not the same as in MPS III or II, contractures in the joints are pronounced, children are “stiffened” when moving. It is characteristic of this type of MPS that the clinical picture is expressed quite sharply, but mental development never suffers. These two MPS phenotypes are accompanied by characteristic skeletal changes.

The clinical picture of Morquio-like MPS differs sharply from that of Hurler-like pathology. Patients are dwarfs, with a specific face and a short body. The first signs of the disease appear after 2 years of age and increase rapidly. The head is quite large, coarse facial features (hypertelorism, saddle-shaped bridge of the nose, protruding lower part of the face). The neck is short, the chest is keeled, and many have kyphosis. The shoulder blades are located high, the forearms are deformed, the hands are soft. Enlarged joints (wrist, knee and ankle). This is especially noticeable due to reduced nutrition. The lower limbs are curved (genu valgum), the feet are spread out. Children get tired quickly, their gait quickly deteriorates, and many stop walking (the reason is compression of the spinal cord). Radiologically, hypoplasia or absence of the C tooth and signs of instability of the atlanto-occipital joint are characteristic. Universal platinum spondyly is observed. Changes in the pelvis are also characteristic: the acetabulum is wide, flat, pressed into the small pelvis, the wings of the ilium are curved, hanging over the heads of the femurs. Their necks are valgus, their heads are sharply flattened and fragmented. The changes in the hands are similar to those in the Gurler-like group.

Children often have poor hearing (early hearing loss); there is a tendency to catch colds. Umbilical and/or inguinal hernias are often observed. In most cases, intelligence is not reduced. Changes in the cardiovascular system such as cardiopathy, enlargement of the liver, and, less commonly, the spleen are often observed. Changes in the eyes are especially pronounced: dystrophic changes in the corneas are characteristic, most often detected using a slit lamp. The total excretion of glycosaminoglycans in urine is increased in all cases. A large number of metachromatically staining granules are also found in polymorphonuclear leukocytes and lymphocytes of patients.

At the same time, all MPS are diseases of glycosaminoglycan accumulation, which occurs due to a defect in the activity of lysosomal hydrolases that carry out their function in lysosomes. One of the informative methods for diagnosing MPS is the study of the ultrastructure of the patient’s connective tissue cells. The most accessible is the examination of skin biopsies. At the same time, characteristic changes are detected in the skin fibroblasts of patients with the Hurler-like phenotype of mucopolysaccharidosis.

Thus, the Hurler-like group of MPS has a certain clinical and radiological phenotype, there is an accumulation of glycosaminoglycans in lysosomes, found in skin fibroblasts, and increased excretion of glycosaminoglycans in the urine. As for the Morquio-like group, such a diagnosis can be established on the basis of clinical, radiological data and hyperexcretion of glycosaminoglycans in the urine, while signs of their accumulation in fibroblasts of skin biopsies are not determined, since keratan sulfate, the breakdown defect of which causes the development of this group of MPS , is not synthesized and, accordingly, cannot accumulate by skin fibroblasts. In this case, a characteristic accumulation of glycosaminoglycans occurs in other connective tissue cells (chondrocytes, keratocytes).

• Achondroplasia

More recently, most disproportionate dwarfs were regarded as having AC. Currently, many forms of dwarfism have been identified.

AC is the most studied type of all forms of hereditary dwarfism with shortened limbs. Children suffering from true AC already at birth have a characteristic clinical picture: a large head, a disproportionate physique with rhizomelic shortening of the limbs. The head may be sharply enlarged, with a large brain part and sharply enlarged fontanelles. A face with a convex forehead and a flattened bridge of the nose. The limbs are shortened, the ends of the fingers of the hands, with a sharp shortening, can reach the inguinal fold, and with a lesser shortening, they can reach the greater trochanter or the upper third of the thigh. Deep skin folds are observed on the shoulders and hips due to excess soft tissue. The hands are short, wide, isodactyly, the fingers are arranged in the form of a trident. In children of the first year of life, looseness of the knee joints is noted. The feet are short and wide. The torso is usually of normal size, the back is either straight, or there is kyphosis in the thoracolumbar spine, which even in small children is fixed and difficult to correct.

• Thanatoform dysplasia

TD was described by P. Marofeaux in 1967, and it got its name from the Greek words “thanatos” (meaning “death”) and “phorus” (seeking), since sick children are born dead or die from respiratory diseases immediately or shortly after birth. The disease is most often confused with AC. At birth, TD is characterized by a sharp shortening of the limbs, a body of relatively normal length, and a rather large head with a pronounced disproportion of the craniofacial region according to the ACH type. A distinctive feature of TD is the narrowing of the chest, reminiscent of a pear. Severe hydrocephalus may occur, making childbirth difficult. A wide variety of extraskeletal anomalies have been described in patients with TD: patent ductus arteriosus, atrioseptal defects, narrowing of the aortic walls, and brain abnormalities. X-ray signs of TD are diagnostic: pronounced platyspondyly with relatively widened intervertebral discs; caudal expansion of the spinal canal. The hip bones appear crooked. The ribs are shortened and flattened, the sternum is depressed.

• Mesomelic dysplasia

MMD is a heterogeneous group of OCD, which is characterized by shortening primarily of the radioulnar and tibial and fibular segments of the extremities. M M D combines 6 types of the disease, 5 of which appear already at the birth of the child (Nivergelt, Langer, Robbinov, Reinhardt Pfeiffer and Werner types). The most common type of MMD is dyschondrosteosis, the only representative of mesomelic dysplasia, which does not manifest itself from birth, but mainly in preschool age. Most often manifests itself as a moderate decrease in height. Other signs of shortening of the forearm and lower leg become noticeable later. Unlike other representatives of osteochondrodysplasias, radial clubhand (the so-called bilateral Madelung deformity) is typical for dyschondrosteosis. The radiograph reveals a triangular shape of the first row of carpal bones, subluxation or dislocation of the hand in the wrist joint. The radius is shortened and the hand is shifted to the dorsal side, as a result of which the upper limb resembles a “bayonet” when viewed from the side. Dyschondrosteosis should be differentiated from Madelung's deformity, which can be one-sided. It is now generally accepted that all cases of “bilateral Madelung deformity” should be considered dyschondrosteosis.

• Metaphyseal chondrodysplasia

Metaphyseal dysplasias are a heterogeneous group of diseases characterized by predominantly metaphyseal lesions with relatively normal epiphyses and spine. The most striking representative of metaphyseal dysplasia is the MCD group. MCD is based on delayed enchondral growth, which occurs as a result of insufficient and improper ossification in the area of ​​the metaphyses of long tubular bones. The development of the epiphyses and bone growth from the periosteum are not impaired. Clinically, this group of diseases is characterized by growth retardation and limb deformities in patients.

• Multiple exostotic chondrodysplasia

In terms of J. Spranger's concept of the existence of J. Spranger's concept of the existence of "families of bone dysplasia", mentioned above when describing Kniest's dysplasia.

In 1966, Giedion described a syndrome characterized by thin and slow-growing hair, a pear-shaped nose, and brachydactyly with wedge-shaped epiphyses. The syndrome is called trichorinophalangeal dysplasia. Some authors have classified this disease as type I, while TRPP, or Langer-Giedion syndrome, is a combination of the TRFI phenotype with varying degrees of mental retardation and multiple osteochondral exostoses.

In terms of the course of exostoses, LGS always resembles the IV clinical form of MECD, and in some cases the disease is more pronounced. Observation of patients with LGS indicates an “aggressive” course of exostoses, since, regardless of the form and location, all exostoses are characterized by increased growth activity. With LSH, the bones look thinned, and dystrophic changes such as cystic restructuring are observed in them.

• Metachondromatosis

Metachondromatosis is one of the “youngest” in the “family of bone dysplasias” under consideration. It is characterized by a combination of exostoses with bone changes like enchondromatosis. Enchondromatosis in metachondromatosis is unique and, in addition to the metaphysis, also covers the paraarticular region and is always located eccentrically. The course of the disease in this syndrome is always favorable, since all exostoses are characterized by “normal” growth activity. Localization of exostoses is mainly on the hand and foot, in a number of cases also on the distal part of long tubular bones. The prevailing opinion is that exostoses localized on the hand with metachondromatosis undergo reverse development during skeletal growth.

Until recently, this “family of bone dysplasias” was considered a monogenic disease called multiple exostotic chondrodysplasia. The subsequent accumulation of clinical material made it possible to identify a number of forms: with TRF in most cases there are no exostoses, for metachondromatosis the course of exostoses is favorable, with LSG there is a more pronounced manifestation of exostoses in combination with degenerative disorders in the bones, and for MECD clinical polymorphism is pathognomonic.

• Osteogenesis imperfecta

According to the X-ray anatomical classification, it belongs to the group of diaphyseal dysplasias. Characteristic clinical signs of imperfect bone formation are frequent fractures, often accompanied by gray-blue sclera and early hearing loss. In the literature, two forms of the disease are distinguished: congenital (when a child is born with deformation of the lower extremities as a result of intrauterine fractures) and late (when fractures appear later). In both this and other forms, gray-blue sclera and late-closing fontanelles may be observed, and sometimes there are soft skull bones in newborns. The teeth are often amber in color, erupt late, and are often affected by caries. Fractures of all skeletal bones are common. Limb deformities can reach very large sizes. The number of fractures does not depend on the form of the disease. Early hearing loss. X-ray changes depend on the severity of the process. The main symptom is widespread osteoporosis of the entire skeleton. Periosteal calluses surrounding a healing fracture sometimes reach enormous sizes, stimulating a tumor (pseudosarcoma). The spine exhibits varying degrees of platyspondyly, and the vertebral bodies acquire a biconcave shape. The cranial sutures are widened with a large number of intercalary worm bones. The diameter of the bone diaphysis is reduced, the bones are thinned. The cortical layer is thinned throughout the bones. This nosological form has been known for a long time and has been studied in some detail from the point of view of clinical and radiological diagnosis, but continues to puzzle researchers with its pronounced phenotypic variability. A number of systems have been proposed for the nomenclature and classification of OI syndromes, some of which are now of historical significance. In particular, the opposition between congenital and late forms of OI is considered untenable, since it has been proven that fractures can begin at birth (or already occur at birth) with any form of OI, and even in the same family there may be cases of congenital and late forms of the disease. However, recent data require a reconsideration of the question of the homogeneity of OI as a nosological form, since it is suggested that the clinical variability of OI is due not only to its variable expressivity, but also to a large extent to genetic heterogeneity. Thus, a classification of OI has been proposed, according to which there are 4 genetic variants of the disease: type I, dominantly inherited with blue sclera, early hearing loss and moderate severity of bone changes; type II is perinatally lethal with a presumed autosomal recessive mode of inheritance; type III with severe progressive deformities, normal sclera, dentinogenesis imperfecta and autosomal recessive inheritance; type IV is dominantly inherited with normal sclera and wide variability in clinical manifestations. However, the possibility of identifying genetic variants of OI based on the description of the clinical phenotype is very doubtful. Phenotypic variability of OI is a reflection of the variable expressivity of the disease. In this sense, special attention was drawn to the question of the distribution of extraosseous signs of OI in families of probands (blue or slate-gray sclera, early hearing loss, dentinogenesis imperfecta). The study of pedigrees showed that parents who have one of these signs or a combination of them, but do not suffer from brittle bones, may have children with various, including severe forms of damage to the osseous-articular apparatus, which should

What causes congenital skeletal malformations. Dysplasia:

• Trichorinophalangeal dysplasia and Langer Giedion syndrome

The etiology of LGS has become clear only recently. In almost all patients with LGS examined cytogenetically using the prometaphase chromosome method, a specific microdeletion of chromosome 8 (q24,lq24,13) was detected. This made it possible to consider the syndrome chromosomal. In addition, a similar but small deletion was identified in several patients with TPFI, but slightly more proximal to chromosome 8 (q24.12). Thus, there is reason to believe that LGS and TRFI are a single pathology, but with multiple exostoses in the first case, which, obviously, is their only difference, since it has been proven that the second distinctive feature of LGS, mental retardation, may be absent. If this is so, then it can be assumed that the gene, which is included in the deletion in LSGS, is preserved in TRFI and, undoubtedly, is mutated or subject to deletion in dominantly inherited multiple exostosis syndrome, especially since the location of the MEHD gene is known on the long arm of chromosome 8 near the LSGS gene . In this regard, another aspect of studying the etiology and pathogenesis of MECD arises.

Pathogenesis (what happens?) during Congenital skeletal malformations. Dysplasia:

• Achondroplasia

Children with AC are delayed in motor development, sit up and get to their feet late. But this does not mean that they need to be taught to sit and walk, because when a child is seated,