CHONDRODYSPLASIA (chondro dysplasia; Greek chondros a cartilage - f a dysplasia) — group of the hereditary diseases which are characterized by disturbances of a skeletogeny which are connected with changes of normal process of ossification of cartilaginous tissue, its insufficient or excess education.
The chondrodysplasia is among rare diseases of a musculoskeletal system. Reliable statistical data are absent.
According to the accepted classification distinguish epiphyseal, fizarny and metafizarny a dysplasia.
Epiphyseal a dysplasia combine group of the hereditary diseases caused by malformations of two cartilaginous zones of an epiphysis: center of ossification and joint cartilage. Cartilaginous tissue in these zones has an anatomic community due to development from one type of chondrocytes. However the structure chondroitin-sulfates and a protein complex in cartilaginous tissue of these zones is various that causes selectivity of metabolic disturbances or in a joint cartilage, or in the center of ossification. In this regard epiphyseal a dysplasia divide on a dysplasia of a joint cartilage and a dysplasia of cartilaginous tissue actually of an epiphysis.
Treat epiphyseal displaziya: the multiple deforming joint chondrodysplasia (Volkov's disease), a gemimelichesky form of an epiphyseal hondrodisila-ziya, a spondiloenifizarny dysplasia, a multiple epiphyseal dysplasia (a disease of Ferbank), di-astrofichesky diforce a ziya, a nsevdoa - a hondroplaziya. The three first forms are connected with a malformation of a joint cartilage, the others — with disturbance of processes of ossification in an epiphysis of a bone.
M of N about e with t in e N of N and I d e f about r-m and r at yu shch and I sou with t and in N and I X about N d r about d and with and l and z and I (about - lezn Volkova) — - the rare form of a dysplasia of a joint cartilage which is characterized by its excess education, growing of cartilaginous tissue into a joint cavity and vto-richn ym giantism of extremities. The mode of inheritance of a disease is not established. Morfol. changes come down to massive growth of a joint cartilage with disturbance of its very tectonics, to secondary change of an epiphyseal rostkovy plate.
The main wedge, a sign — giantism of extremities, is more often — one of lower (see fig. 20 to St. Bone, t. 11, Art. 458); also other localizations of defeat are possible. Lengthening of an extremity (at the birth on 1 —
Fig. 1. The patient of 14 years with a gemimelichesky form of an epiphyseal dysplasia: a deforma
a tion of the left lower extremity due to growth of cartilaginous tissue of an epiphysis and increase in length of a femur during the shortening of a shin.
2 cm) by 15 years reach 7 — 25 cm. Cartilaginous growths, it is preferential in knee joints, lead to development of flexion contractures, rigidity, ankiloz in vicious situation. Foot on the party of defeat is sharply increased in comparison with healthy (by 4 — 5 sizes of footwear); the sizes of a patella are increased by 3 — 4 times in comparison with norm. On upper extremities giantism of fingers from ankiloza in interphalangeal joints is observed preferential. At damage of bones of a skull valikoobrazny growths of a fibrous cartilage on the course of seams are formed, to-rye ossifitsirutsya after completion of puberty. They can squeeze a brain that is the reason of epileptiform attacks. At localization of process in upper cervical vertebrae the prelum of a spinal cord with development of paresis and paralyzes is possible. To characteristic a wedge, to symptoms of this disease also changes of skin and hypodermic cellulose on the party of defeat — a nevus pigmentosus, hemangiomas, big lipomas, and in axillary hollows, in inguinal areas, on the bottom party of feet — sites of a hyperkeratosis carry.
Radiological flattening of an epiphysis of the affected bones, joint surfaces decides on uneven fringed contours, the structure of metaphyses is rarefied, grubotrabekulyarny, the zone of the growing cartilage is expanded and deformed. In a joint cavity intra joint bodies of irregular shape are found (single or in the form of conglomerates K connected by a synovial membrane and a joint cartilage.
Treatment — removal of excess growths of cartilaginous tissue, the shortening resections of a bone; at defeat of all segments make amputation of an extremity. At localization of process in vertebrae and a prelum of a spinal cord make a decompressive laminectomy (see).
The forecast in many respects is defined by localization of defeat. In the presence of large ossificates on the course of seams of a skull the forecast adverse.
e m and m e l and h e with to and I f about r-m and epiphyseal x about N the Dr. about d and with p l and z and and — defeat of a half of one or several epiphysis of one extremity. More often the astragalus and an epiphysis of long tubular bones are surprised. Excess growth of cartilaginous tissue on a joint surface of the struck epiphysis is followed by the giperilastichesky growth of a bone.
The disease arises at children's age. The main wedge, a sign — the growing painless formation of bone density, a cut is located usually on the medial party of the struck epiphysis. Despite increase in length of one of segments, the total length of an extremity is not increased in connection with shortening of an adjacent segment. Gradually there occurs the deformation of an extremity (fig. 1) with the phenomena of arthrosis (see) which is followed by pains, lameness.
Radiological define disturbance of congruence of joint surfaces, reveal the increased part of the struck epiphysis, existence of the centers of consolidation in it and an enlightenment of various size and a form.
Treatment is operational, it is recommended to make before development of secondary deformations. An operative measure consists excess osteoarticular growths within a healthy bone at a distance.
The forecast concerning function of an extremity adverse because of a prematurity of arthroses. After an operative measure a recurrence is possible.
With p about N d and l about - an epiphyseal dysplasia - the malformation, to-rogo is the cornerstone the dysplasia of cartilaginous tissue which is characterized by insufficiency of development of a joint cartilage. Symptoms of a disease appear in process of growth of the child; newborns are clinically healthy.
In hard cases on the first year of life restriction of assignment of hips is noted. Later lameness, «duck gait», fatigue during the walking join, restriction of movements in hip, knee joints, later — in talocrural. By 7 years in connection with deepening of acetabular hollows the cross diameter of an entrance in ma-is considerably narrowed
by Fig. 2. The patient is 14 years old with a spondiloepi-fizarny dysplasia: legs are bent
in connection with flexion contractures of hip and knee joints.
ly basin. In the subsequent the lumbar lordosis sharply increases, the expressed flexion contractures in joints of legs are observed (fig. 2, 3, a). Approximately at a half of patients dislocation of a patella with development of genu valgum is noted (see. Knee joint, diseases). Despite the listed changes of a skeleton, growth of children there is within norm, an addition — rather proportional. The changes connected with disturbances of regulation of a muscle tone (see), defeat of muscular tissue (a cardiopathy, emergence of inguinal, umbilical hernias, a divarication of recti), increase in a liver, spleen, a myopia, an astigmatism, dystrophy of a crystalline lens, vitreous and cornea are quite often observed.
Radiological reveal characteristic changes of bodies of vertebrae: they are flattened (a universal platyspondylia), it is more in chest department, the closing plates uneven. Perednezadny and side sizes of bodies of vertebrae normal; this sign is decisive in diagnosis of a disease. Also flattening of an epiphysis of all long tubular bones, a smoothness of an intercondyloid eminence of a tibial bone, deepening of an intercondyloid pole of a femur are defined; the lobular patella is characteristic (see the Patella, pathology).
Treatment preferential conservative — to lay down. physical culture, massage, dignity. - hens. treatment. Adult patients need to select spe-
Fig. 3. Outward of patients with some forms of a chondrodysplasia: and — the boy of 6 years with a spondiloepifizarny dysplasia; the head is rather increased, a dolichocephalia at a normal skeleton of the person, dwarfism generally due to shortening of a trunk; — the boy of 8 years with a pseudo-achondroplasia: deformations are similar to those at an achondroplasia, but at a normal amount and a shape of the head; in — the boy of 6 years with an achondroplasia: disproportionately big head, the hanging forehead, a saddle nose, dwarfism, it is preferential due to shortening of proximal segments of extremities.
the tsialnost which is not connected with long standing, movement or heavy loads of the musculoskeletal device. At flexion contractures in knee joints make operation of movement of a patella (see the Patella, damages), in some cases in combination with an epicondylic osteotomy (see) femurs.
The forecast concerning function of extremities at systematic conservative treatment rather favorable. However the early arthroses which are followed by pains, sharp restriction of movements, an anchylosis of hip joints in vicious situation are possible.
Fig. 4. The patient is 16 years old with a diastrofeature-sky dysplasia: multiple deformations of extremities with dislocations and incomplete dislocations, looseness of joints, flexion contractures and a bilateral clubfoot.
The multiple epiphyseal dysplasia — a hereditary general disease of a skeleton, to-rogo is the cornerstone disturbance or a delay of ossification of an epiphysis in this connection there is a curvature and shortening of the lower extremities. The disease is shown in process of growth of the child, is frequent — at children of advanced age (see Ferbank a disease).
The diastroph and chesky dysplasia (diastrofichesky dvar-fizm, epiphyseal dysostosis) is characterized along with other manifestations by disturbance of development of an epiphysis of bones in this connection there is a delay or a perversion of their formation. A mode of inheritance — autosomal and recessive.
At patients shortening of extremities, scoliosis are noted (see), deformation of a thorax, it is frequent with formation of a kyphosis (see), dislocations and incomplete dislocations in joints of extremities, their looseness, flexion contractures, sharply expressed bilateral clubfoot (fig. 4).
Radiological deformations of short tubular bones are most typical, e.g. the I metacarpal bone, edge has the rounded or triangular form; metacarpal, plusnevy bones, phalanxes of fingers of brushes and feet are shortened, thickened, sometimes fancifully deformed. In hip joints reveal a growth inhibition of the centers of ossification, an underdevelopment of acetabular hollows and the proximal ends of femurs, dislocations of hips. In knee joints reveal incomplete dislocations of a shin of a kzada and a knutra, in elbow — incomplete dislocations and dislocations of bones of a forearm of a kzada and in the elbow party.
Treatment is directed to elimination of deformations. At the beginning of a disease for this purpose apply to lay down. gymnastics, imposing of plaster splints on a brush. The varus component of deformation of feet gives in to correction by means of step-by-step plaster bandages. The Ekvinusny component does not manage to be corrected since the recurrence because of flexion contractures in knee and hip joints is inevitable. After elimination of varus deformation of a shin patients carry the splint closing a knee joint. In 3 — 7-year age resort to operational treatment of a clubfoot (see). Effective elimination of heavy contractures is possible by means of osteotomies (see) with a resection of bones or lengthening of muscles for the purpose of reduction of their tension. At a compression of a spinal cord in connection with progressing of a kyphosis make a laminectomy (see). Dislocations and incomplete dislocations of hips and shins but set because of an inevitable recurrence and complications in the form of sharply proceeding arthroses depriving of patients of an opportunity independently to move. Recommend endoprosthesis replacement (see) hip joints in 16 — 18-year age.
The forecast for life favorable; the forecast concerning function of an extremity adverse — comes early disability in connection with the progressing deformations of a skeleton, hl. obr. extremities.
Psevdoakhondropla z and I is characterized by disturbance of an endostosis, especially in an epiphysis of extremities.
At newborns the disease is not shown, but in the course of growth of the child shortening of an extremity on rizomelichesky type, i.e. hl comes to light. obr. at the expense of a hip and a shoulder. Growth of adult patients usually does not exceed 130 cm. A trunk disproportionately long, extremities are shortened (the III finger of a brush of the lowered hand reaches only the level of a big spit); the lumbar lordosis is expressed (see). Contractures in elbow and shoulder joints are characteristic, typical changes of the lower extremities come to light: valgus deformation with reduction of a hip on one party and varus deformation with assignment of a hip — on another. On the party of valgus deformation the incomplete dislocation of a hip which is followed by a secondary distortion of a basin develops; scoliosis (see), incomplete dislocations of knee and ankle joints develop (fig. 3, b).
At rentgenol. a research it is found out that heads of femurs are reduced, have unevenly speckled structure; in an epiphysis of the bones forming a knee joint the chaotic centers of ossification located on the periphery to-rye gradually come to light increase and merge. By 17 — 18 years an epiphysis gets rather correct form, however their nek-paradise flatness remains. Epiphyseal rostkovy zones are narrowed, deformed.
The differential diagnosis is carried out with an achondroplasia and a disease of Ferbank. Dwarfism due to sharp shortening of extremities with a normal length of a trunk is also characteristic of an achondroplasia, however unlike patients with an achondroplasia a form and the size of the head of them normal. At a disease of Ferbank the wedge, symptoms of a disease appear not from the beginning of growth of the child, and at later age (in 10 — 16 years) therefore at most of patients of a bone of a skeleton are not so sharply changed as at a psevdoa-hondroplaziya, and by outward they differ from normally developing children a little.
Treatment preferential conservative, directed to prevention development of arthroses and elimination their painful manifestation; at deformations of the lower extremities make corrective osteotomies.
The forecast for life favorable. The forecast concerning function of extremities depends on a profession (patients shall select a profession, at a cut long walking and loadings are excluded). Progressing of arthroses results in disability.
Fizarnye of a dysplasia — group of hereditary general diseases of a skeleton, to-rykh are the cornerstone of disturbance of development of a rostkovy epiphyseal plate. The achondroplasia, a gipokhondronlaziya and an exostosis-naya a chondrodysplasia belong to fizarny displaziya.
The achondroplasia (a chondrodystrophia, a diaphyseal aplasia, a hondrodistrofichesky nanism, an achondroplasia of a fruit, a disease of Paro — Mari, an inborn chondrodystrophia, a chondrodystrophia hypoplastic, the microm a lichesky nanism) is known from an extreme antiquity. Its first description belongs to F. Gleason (1660). The term «achondroplasia» entered Paro (J. M of J. Parrot, 1876), and P. of Mari (1900) in detail described a wedge, a picture of a disease. Also the term «chondrodystrophia» offered by Kaufmann was widely adopted (E. Kauf-mann, 1892).
The achondroplasia develops for the first time the resulted or inherited dominant mutation with a full penetraitnost (see Penetrantnost of a gene). According to
V. Mac-Kjyuzika (1975), mode of inheritance of an achondroplasia autosomal dominantly. According to Scott (S. of I. Scott, 1976), ok 80% of cases of an achondroplasia — result for the first time of the arisen mutation, i.e. most of patients with an achondroplasia have healthy parents, brothers, sisters. Healthy parents of the first sick child have a risk of the birth of the second sick child minimum. At healthy brothers and sisters of the patient with an achondroplasia healthy children are born. If with an achondroplasia only one of parents is sick, then the probability to have the sick child makes 50% if both parents — 75% are sick.
At an achondroplasia processes of an endostosis against the background of normal enostal-ny and periosteal ossification are broken. As a result of a vicious, chaotic arrangement of cells of a rostkovy cartilage process of ossification is broken, and growth of bones in length is slowed down. According to Scott (1976), the growth disorder of a cartilage at an achondroplasia is connected with defect of oxidizing phosphorylation. The bones developing from hondroblastiches-to are surprisedy systems — bones of extremities and a base of skull; growth of bones of a connective tissue (desmalny) origin is not broken as iyerio-stalny and endosteal growth is not broken, a diaphysis of tubular bones not only is shortened, but also thickened, their relief is sharply strengthened due to excessive development of a bone tissue in places of an attachment of muscles.
At an achondroplasia soft tissues (skin, muscles) are developed normally, but skin of extremities because of smaller, than usually, the areas forms rough folds, and well developed muscles on short extremities seem hypertrophied. The epiphyseal plate of growth of tubular bones and region of growth of other bones are narrowed. Density of cartilaginous substance normal. Histologically reveal oppression of proliferation of cartilaginous cells in regions of growth of bones. Internals are not changed.
The achondroplasia is shown already in the pre-natal period and leads in some cases to antenatal death of a fruit; a part of newborns is impractical. Patients have characteristic disturbances of proportions of a body — dwarfism as a result of shortening of extremities, hl, obr. at the expense of a hip and a shoulder (at newborns of a hand reach a navel, at adult patients — an inguinal fold or a big spit). The trunk of patients has the normal length and width of a shoulder girdle. Growth usually makes 90 — 120 cm. Abnormal and unequal growth of a bone on all area of an epiphyseal plate causes deformation of an epiphysis, varus or valgus deformation of extremities. Uneven growth of bones of two-bone segments of extremities causes development of characteristic deformations. So, owing to the advancing growth of a beam bone its head is dislocated, the flexion contracture in an elbow joint develops, the brush deviates in the elbow party. The structure of a brush is characteristic: fingers are shortened, thickened, the difference inherent to them on length is absent (isodactylism). Varus deformation of a tibial bone is aggravated with disproportionately extended fibular bone that leads to internal torsion of a shin with formation of secondary deformations of feet. Fingers and front departments groan wide. The sizes of a basin are reduced, high standing of big spits of femurs therefore disturbance of gait develops is noted (patients are shaken during the walking). The stomach is stuck out, the basin is inclined forward, the expressed lordosis in lumbar area is observed. Discrepancy between the dwarfish growth and disproportionately big mass of muscles is expressed. At the expense of well developed muscles and ligaments inferiority of the bone and joint device is compensated.
The head of patients with an achondroplasia is disproportionately big (brachycephaly). The base of skull is shortened as a result of premature ossification of synchondroses of the main and occipital bones, and bones of the arch and a front part of a skull are developed normally; owing to such discrepancy the picture of the hanging forehead is created. The nose is saddle, the prognathism can be observed (see the Bite). The neurocranium is sharply increased, parietal, frontal and occipital hillocks act (fig. 3, c).
At adult patients are possible nevrol. the frustration connected with a stenosis of a big (occipital) opening or narrowing of the vertebral channel in lumbar department. Primary and secondary sexual characteristics at patients with an achondroplasia are developed normally. The intelligence is kept.
According to a X-ray analysis, at an achondroplasia at a fruit, the newborn and the child at chest age the centers of ossification appear in usual terms, however an epiphysis, bones of a wrist and a tarsus form from several centers of ossification having irregular shape. The epiphyseal centers of ossification are flattened, epimetafizarny zones are dugoobrazno bent, metaphyses are expanded; the accelerated ossification of synchondroses of bone segments is noted. Rentgenol. the picture of the created skeleton of patients with an akhondronlaziya is very typical. Diameter of tubular bones is increased, cortical (compact) substance is thickened. Metaphyses are expanded, have an appearance of a bell, an epiphysis massive, hang in the form of a mushroom over metaphyses, their joint surfaces are deformed, incongruent. Strengthening, coarsening of a relief of tubular bones, hl is noted. obr. in places of an attachment of sinews and muscles (tuberosity of a tibial bone, a deltoid roughness of an ilech, spits of a hip, etc.). Edges are shortened, are located horizontally, their sternal ends, heads and necks are thickened and deformed. Clavicles have the normal sizes, are straightened; the thorax is flattened. The backbone is changed slightly: bodies of vertebrae are a little shortened and flattened, intervertebral joints are moderately deformed. M. V. Volkov and sotr. (1972) described a symptom of the accruing narrowing of distance between roots of arches of vertebrae in the caudal direction, to-ry, in their opinion, pato-gnomonichen for an achondroplasia. The sizes of a basin are reduced, wings of ileal bones are shortened, developed, acetabular hollows are flattened, have a pulled surface, locking openings are increased, sacroiliac joints are expanded, deformed.
The differential diagnosis is carried out with Konradi's disease, Morkio's disease and a psevdoakhoidroplaziya. Are characteristic of Konradi's disease shortening of one or two, restriction of movements in large joints is more rare than all extremities; frequent combination to other congenital anomalies: radiological op
the small centers of adjournment of salts of calcium in cartilages, especially in epiphyseal redelyatsya. At Morkio's disease dwarfism is connected with shortening and deformation of a trunk with a normal length of extremities (see Morkio a disease). The differential diagnosis with a psevdoakhondropla-ziya is stated above.
Treatment of patients with an achondroplasia is begun at once after the birth. The child shall sleep in an equal bed; for prevention of flexion contractures of extremities surely stack it on a stomach. Strengthening of muscles of extremities, spins, a stomach is reached by systematic massage. It is necessary to consider that maturing of a musculoskeletal system at this disease in a slowed-up way therefore to begin to sit and stand the child shall only when is able to make it independently. It to some extent prevents development of deformations in knee joints and formation of a kyphosis (see). At the created deformations of the lower extremities carry out corrective osteotomies (see). Sometimes after an osteotomy make lengthening of a segment of an extremity by means of distraktsionno-compression devices (see). Usually at first extend shins, and then hips. With the remained and functioning epiphyseal regions of growth carry out a distraktsionny epiphysiolysis (see Changes) proximal and distal regions of growth of a tibial bone or distal region of growth of a femur. Lengthening is made slow rates, controlling a condition of the muscular device and joints in connection with danger of failure of compensatory mechanisms of defective joints. Besides, it is necessary to consider that after considerable lengthening of the lower extremities by the patient it becomes more difficult to use upper extremities (they cannot make a toilet of feet, independently lace up boots etc.). It causes the necessity after lengthening of the lower extremities to make lengthening of upper.
For the purpose of prevention of deformations of legs and a backbone by the patient it is recommended to get the professions which are not connected with hard physical work.
The forecast for life favorable. At failure of compensatory mechanisms of joints as a result of the overloads connected with hard physical work, the forecast concerning function of extremities adverse: heavy dystrophic processes in joints can result in disability.
The ipokhondroplaziya sometimes considers as the erased form of an achondroplasia. The etiology and its pathogeny are found insufficiently out. Mode of inheritance autosomal domi-nantny.
To 2-year age the head of the child is disproportionately big; lag in growth is observed from 3 — 4 years. Growth of adult patients usually 130 — 145 cm. The disproportion of a constitution arises owing to shortening of extremities with a normal length of a trunk; person usual. The thorax is wide, flat, the lordosis in lumbar, sometimes and in chest department of a backbone is noted. Brushes and feet wide, the small isodactylism is noted. Sometimes reveal unsharp varus deformation of shins (fig. 5).
Idiosyncrasy of rents-genol. pictures the fact that the distance between roots of arches of vertebrae in lumbar department of a backbone is not narrowed in the caudal direction as at an achondroplasia, and does not extend as is normal is, and remains invariable. Shortening and a thickening of femoral and humeral bones comes to light; an epiphysis of the bones forming a knee joint has the «square» form. Sometimes rents-genol. changes are defined at dynamic observation of the patient.
Fig. 5. Outward of the girl of 11 years with a gipokhon-dronlaziya: shortening
of the lower extremities, a lordosis, however in comparison with other forms of a hondrodisilaziya of deformation are expressed much less, and proportions are close to normal *
Treatment preferential conservative, is shown only at emergence of arthroses (see). Recently sick with a gipokhondroplaziya make lengthening of the lower extremities with the cosmetic purpose. Forecast favorable.
The Ekzostozny chondrodysplasia (exostoses, an ekzostozny disease, youthful kostnokhryashchevy exostoses, multiple osteoarticular exostoses, a multiple hereditary osteochondromatosis, a chondrodysplasia the deforming hereditary) is shown by education on the surface of bones of single or multiple osteoarticular educations. Single exostoses are not inherited; multiple exostoses are inherited on autosomal type of dominants nomas.
The etiology is not finalized. Carry an injury, rickets to the contributing factors, inf. diseases, insufficiency of function of endocrine system, anomaly of a periosteum and cartilage.
Essence patol. process is that at the broken histogenesis cartilaginous cells of a rostkovy zone produce the bone substance which is located at an angle to a longitudinal axis of a bone that leads to formation of osteoarticular ledges. With growth of a bone (at children of advanced age) they are located in zones of metaphyses or a diaphysis, at the same time the top of an exostosis is always directed to the center of a bone. Cartilaginous rostkovy tissue in the course of growth of an exostosis is removed from the basis on its top; in the same direction there is a process of ossification of an exostosis. By the time of formation of a synostosis of an epiphysis with a diaphysis there occurs ossification and a cartilaginous cover of an exostosis.
In morfol. the relation single and multiple exostoses are same. Distinction consists that at multiple defeat exostoses are less compact especially in the field of the basis where the cartilage is located in spongy substance of a metaphysis; the basis of single exostoses is presented by the sclerosed bone. Outside the exostosis is covered by a nadkhryashchnitsa, being continuation of a periosteum of a bone, and its spongy substance represents continuation of spongy substance of a bone. The top of an exostosis is covered with a hyaline cartilage (a cartilaginous cover).
Wedge. manifestations of exostoses are typical: epiphyseal regions of growth have formations of bone density delimited from soft tissues, motionless, painless at a palpation; skin over them is not changed. At nek-ry patients the disease comes to light since the birth; odinoch-h ye exostoses at most of patients are shown at the age of 6 — 12 years, multiple — aged up to 4 — 6 years. On a wedge. to a current distinguish the uncomplicated exostoses growing in parallel with growth of a bone, early ossifitsiru-yushchiyesya, sometimes I rassasyvat shch and e with I
Fig. 6. The patient is 15 years old with a multiple ek-zostozny chondrodysplasia: exostoses
of top and bottom extremities of various form and sizes; in the right elbow joint the head of a beam bone (it is specified by an arrow) owing to dislocation acts.
before the end of growth of a skeleton; the proliferating exostoses growing with an advancing of growth of a bone, reaching the big sizes and in 5% of cases continuing grow at adult patients. Exostoses are divided by a form and the direction of growth on linear, holmovidny, spherical; their form depends on the sizes of a cartilaginous cover, rates of his dystrophy.
The most frequent localization of exostoses — on the ends of the bones forming a knee joint on the proximal end of a humeral bone (fig. 6); quite often the shovel and edges where exostoses are located in the place of transition of a bone part of an edge in cartilaginous (fig. 7) are surprised. On bones of a forearm exostoses are located in distal departments, on foot — a thicket on a distal phalanx of the I finger (so-called exostoses of Dyu-pyuitrena); the last proceed from the proximal epiphyseal end of a phalanx, they early ossifitsirutsya and turn into a hyponychial osteoma. At a multiple form patients can have from 10 to 40 exostoses which are often symmetrized; cases when one patient had several cells of exostoses are described.
Fig. 7. The child of 6 years with an exostosis of an edge:
large holmovidny 'education on a front side surface of a thorax.
Growth of exostoses is followed by development of primary and secondary deformations of bones. Primary deformations are connected with a direct vystoyaniye of exostoses. The prelum big exostoses of nervous trunks is possible that is followed by painful contractures, paresthesias, paresis, vascular frustration. Contractures can be partly connected with the direct obstacle created by a massive exostosis, to the full volume of movements in a joint. Excessive pressure of a big exostosis upon the next bone causes its curvature, an underdevelopment of epiphyseal region of growth that, in turn, leads to an underdevelopment of an epiphysis and secondary deformations. Massive growths in proximal departments of humeral bones squeeze the anatomic educations located in an axillary hollow and limit the movements in shoulder joints (patients are forced to go with the taken-away hands). At an arrangement of exostoses in proximal department of a hip except characteristic valgus deformation of a neck of a femur the taking-away contractures owing to the mutual pressure of exostoses, coming from a femur and pelvic bones develop. The exostoses which are located in distal departments of bones of a forearm cause their varus deformation, shortening of an ulna, dislocation of a head of a beam bone that leads to a flexion contracture of a forearm and elbow talipomanus. The exostoses of tibial bones which are localized in proximal and distal departments are followed by valgus deformations of shins with secondary deformations of feet. Exostoses, coming from heads of a fibular bone, quite often lead to disorder of functions of a deep fibular nerve. Exostoses of a shovel, coming from its front surface, are the reason of development of a so-called alate shovel and secondary deformation of edges.
The form of an exostosis revealed at rentgenol. a research, depends on its localization. The exostoses which are located in proximal department of a humeral bone and in distal department of a tibial bone have the wide basis and the holmovidny form (fig. 6), they are as if spread up to a bone; in their basis there is a lot of cartilaginous tissue. In a distal metaphysis of a hip and a proximal metaphysis of a tibial bone exostoses with a narrow long leg — linear exostoses (fig. 9) are formed. Their body is extended; it consists of a spongy bone and obyzvestv-lyayushchegosya a cartilage, at top there is a cartilaginous cover. In proksimal-
Fig. 8. Roentgenogram of a distal third of a shin and proximal part of an ankle joint of the patient ekzostozny hondro dysplasia (direct projection):
the arrow specified a holmovidny exostosis in the field of a metaphysis of a tibial bone.
Fig. 9. Roentgenogram of a distal third of a femur of the patient with an ekzostozny chondrodysplasia (side projection):
multiple exostoses (/— linear, 2 — holmovidny).
numbers department of a fibular bone, distal department of bones of a forearm, in the field of a trochantin of a hip exostoses have spherical shape; bones take the blown-up, foamy form, and the numerous, spherically located deposits of salts of calcium give them looking alike a cauliflower (fig. 10). Exostoses have accurate contours at the expense of a compact bone plate. Structural drawing of exostoses fan-shaped; the main trabeculas are located with a narrow bunch in a leg and are as if scattered to its surface. In holmovidny exostoses of Strukturny drawing grubotrabekulyarny. To linear — thicker plates go parallel to a longitudinal axis of a bone and a surface of an exostosis. Metaphyses of bones are expanded, extended, have characteristic deformations: valgus — in a neck, the proximal and distal end of a femur and the proximal end tibial, varus — in bones of a forearm. In some cases on the roentgenogram it is possible to find changes of exostoses, especially linear and spherical with narrow legs.
The clinicoradiological picture of multiple exostoses is characteristic and is not similar to one other disease of a skeleton. Single exostoses can be taken, for an osteoma, and at pains — and for an osteosarcoma or a chondrosarcoma, however rentgenol. the research allows to reject this assumption. Single exostoses differentiate with heterotopic ossificates and an ossifying-sya hematoma. Specified patol. educations are more often localized at an elbow joint and have no accurate focus of growth to the center of a diaphysis.
Treatment operational. Single exostoses delete damage after their movement of a diaphysis when they are not connected with epiphyseal region of growth any more, the cut can lead to its premature closing and deformation of an extremity. At multiple exostoses delete only those, to-rye cause pain, put pressure upon neurovascular bunches, the next bones or quickly grow. Operation consists an exostosis together with a periosteum and a cartilaginous cover within a healthy bone at a distance. According to indications, napr, at a curvature of the affected bone, removal of exostoses can be combined with a corrective osteotomy. In case of an underdevelopment of region of growth or all epiphysis after removal of an exostosis the shortened and deformed bone is extended and leveled by means of an osteotomy or kompression-but-distraktsionnogo the device. This technique is especially often applied during removal of the exostoses which are localized in a forearm and a shin.
The forecast for life favorable. At the started big exostoses which caused heavy secondary deformations, the forecast concerning function of an extremity adverse. On site big development is long the existing exostoses perhaps (secondary
Fig. 10. Roentgenogram of bones of a forearm and proximal part of a brush of the patient with an ekzostozny chondrodysplasia (direct projection): by an arrow it is specified sharovid
a ny exostosis, coming from an inner surface of a distal metaphysis of a beam bone.
chondrosarcomas (see). At a multiple form of a disease one of exostoses maligni-zirutsya usually. Persons with multiple exostoses are subject to dispensary observation.
Metafizarnye of a dysplasia. The delay of enchondral growth owing to insufficient and wrong ossification of a cartilage in the field of metaphyses of long tubular bones is the cornerstone of metafizarny displaziya. Clinically this group of diseases is shown by lag in growth and deformations of extremities.
The etiology, a pathogeny, and also clinical, radiological and genetic features of these diseases are almost not studied. The metafizar-ny chondrodysplasias which are characterized by the most expressed deformations of a skeleton, in particular like Jansen, Schmid's type, type Mack-Kyo-zika and a dyschondroplasia (Ollye's disease) are rather fully described only nek-ry of them.
Metaf. the izarny chondrodysplasia like Jansen meets extremely seldom. According to Kozlowski (To. Koz-lowski), in the world literature till 1976 is described 10 cases of this disease.
Patients have a characteristic appearance: eyes are widely placed, the exophthalmos, переносиц^ wide y low is noted, the mandible is underdeveloped owing to what it forms wrong pridus, growth low because of the deformed hips and shins shortened sablevidno. Joints are increased in volume, deformed, fingers of hands thick and short; the bringing flexion contractures in knee and hip joints are observed; feet flat with valgus deformation. Owing to contractures patients go having bent forward; hands reach knees below. Growth of adult patients reaches 125 cm.
Radiological the normal amount and a structure of vertebrae, bones of a wrist, a tarsus comes to light that is distinctiveness of this disease. Metaphyses of tubular bones are chasheobrazno expanded, their structure is uneven (extensive defects of a bone tissue alternate with sites of fragmentation and unstructured ossificates). An epiphysis is not changed.
Treatment of a disease operational — corrective osteotomies of segments of the lower extremities for the purpose of elimination of flexion contractures.
The forecast for life favorable. The correct selection of a profession is necessary (an exception of long walking, transfer of weights, etc.).
The Metafizarny chondrodysplasia like Sh m of ides and is characterized by lag in growth and deformation of the lower extremities. However deformations are expressed much less, than at a metafizarny chondrodysplasia like Jansen. On the second year of life of the child there are first symptoms of a disease: lag in growth «duck gait», a lumbar lordosis. Varus deformation of shins, as appears and accrues at heavy rickets. The person, unlike a face of patients with a chondrodysplasia like Jansen, is not changed.
Radiological the most characteristic changes in proximal departments of femurs come to light: necks are shortened, expanded, have varus deformation, structure their friable, contours uneven, the zone of an epiphyseal cartilage is expanded. An epiphysis is not changed.
Symptomatic treatment; at indications make an osteotomy on purpose, corrections of deformations. Forecast favorable. -
A metaphysis rn and I x about N the Dr. about d and with ii jj and 3 iya type M and k-Kyyuzi (a volosokhryashchevy gi-tsoplaziya). At this disease children are born normal, with a usual weight (weight) of a body, but small growth. In process of their growth the wedge, symptoms of a disease develop. Extremities become is shortened -
ny, brushes and feet short, wide with short thick fingers. The underdevelopment of hair is characteristic (they thin, rare). Often anemia, a megacolon meet. At these patients resistance to a virus of chicken pox in this connection the disease of chicken pox quite often leads to heavy complications and a lethal outcome is sharply reduced. Radiological sharp expansion and increase in volume of metaphyses in the field of a knee joint come to light. Vertebrae at children biconvex, at adults — normal.
Symptomatic treatment. The forecast for life adverse.
Diskhondropl Asia (Ollye's disease, a chondromatosis of bones) is characterized by formation of the multiple dysplastic centers of cartilaginous tissue, is preferential in the field of metaphyses of long tubular bones (see Maffuchchi a syndrome, the Chondromatosis of bones).
Prevention hondro displaziya,
as well as other hereditary diseases (see) is performed spetsia.................... In a medico-ge-neticheskikh consultations (see) define degree of genetic risk and make the corresponding recommendations for a child-bearing to families, in to-rykh there are cases of diseases. An important role is played by prenatal diagnosis for the purpose of the solution of a question of preservation or abortion. Early diagnosis and timely begun treatment allow to prevent development of heavy deformations in some cases.
Bibliography: And N d r and and N about in V. L. and Sh and sh-to and N and T. N. Gemimelicheskaya an epiphyseal dysplasia, in book: Aktualn. vopr. travmat. and the orthoitem, under the editorship of M. V. Volkov, century 7, page 48, M., 1973; Berezhnaya A. P. The multiple deforming joint chondrodysplasia, Ortop. and travmat., No. 5, page 9, 1973; In about l to about in M. V., etc. Hereditary general diseases of a skeleton, M., 1982; Kosinskaya N. S. Disturbances of development of the bone and joint device, JI., 1966;
Reynberg S.A. Radiodiagnosis of diseases of bones and joints, book 1, M., 1964; Yu to and - N and G. P. Changes in hip joints at an ekzostozny hondro of a dysplasia, Ortop. and travmat., No. 6, page 47, 1971; With a f-f e at J. Achondroplasia of pelvis and lumbosacral spine, some roentgenographic features, Amer. J. Roentgenol., v. 80, p. 449, 1958; F an i r b a n k H. A. T. From atlas of general affections of skeletin, achondroplasia, synonyms-chondrodystrophia foeta-tis, micromelia, J. Bone Jt Surg., v. 31-B, p. 600, 1949; McKusickV. A., Kel-lyT. E. a. Dorst J. P. Observations suggesting allebism of the achondroplasia and hypochondroplasia genes, J. med. Genet., v. 10, p. 11, 1973; S with about 11 S. of I. Achon-droplastic and hypochondroplastic dwarfism, Clin. Orthop., v. 114, p. 18, 1976.
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