Spondyloepiphyseal dysplasia of the upper and lower extremities

Peculiarities

Male and female children are equally susceptible to this disease.

The disease develops as a result of a defect in the structure of proteins in cartilage and bones. These disorders relate to mutations of the COL2A1 gene, which lead to changes in collagen - not being able to perform its functions normally.

Another type of dysplasia is quite rare - a mutation of the SEDL gene, which encodes the sedlin protein. The defective structure of this protein makes it difficult to modify proteins that are part of bone and cartilage tissue. This type of dysplasia is characterized by mild symptoms and does not affect the organs of hearing and vision.

In the progression of any type of dysplasia and the development of its main symptoms, the static load on the bone apparatus plays a decisive role. That is, ossification points form in the vertebrae later than usual, and at this time the child’s body weight is already deforming the spine, for this reason ossification occurs with disturbances.

The same thing happens with the epiphysis of the tubular bones, which is why dysplasia mainly affects the lower extremities. It is this feature that is used during the treatment of dysplasia: it is important to use orthopedic structures as early as possible that reduce the load on some parts of the skeletal mass, this gives them the opportunity to properly form and ossify.

By six months of a child's development, only a slight abduction of the hips can be noticed. When the child begins to stand on his feet and take his first steps, other signs of pathology may appear - a waddling gait, fatigue, and problems with the hip and knee joints.

It is sometimes possible to make a correct diagnosis only by the age of seven, when lumbar lordosis (curvature of the lower back with a convexity forward) is clearly observed. From this age, changes in the child’s skeleton become clearly noticeable, but this is especially visible in the limbs. At the same time, the child continues to grow, and the body remains proportional.

Along with skeletal changes, disturbances appear in internal tissues and organs: muscle tone deteriorates, spinal hernias may occur, and the spleen and liver increase in size.

Pathology can only be confirmed using radiography. The image will show compacted vertebrae of irregular shape, but, unfortunately, this does not only indicate this disease, so the examination must be carried out carefully. Accurate confirmation of the diagnosis can only be provided by photographs taken at different ages, which are subsequently compared and help to recreate a clear picture of the disease.

Symptoms

The clinical picture of dysplasia depends on which organ is affected.
Cervical dysplasia manifests itself:
menstrual irregularities;
whitish discharge from the genitals;
pain in the lower abdomen;
unpleasant sensations during sexual intercourse.

Hip dysplasia is characterized by:

limited mobility in the hip joint;
asymmetrical skin folds on the inner thighs;
presence of a click when flexing the hip joint;
shortening of one leg relative to the other.

Symptoms of connective tissue dysplasia:

thinning of the skin or the appearance of scarring on it;
deformations of the skeleton and joints;
decrease in muscle mass;
changes in the tissues of internal organs, for example, vasodilation, bronchial defects.

Clinical manifestations

The main symptom of spondyloepiphyseal dysplasia is shortening of the lower and upper limbs. This occurs as a result of a disproportion between the hip and shoulder. In this case, the hands and feet may be normal, or they may be slightly deformed.

The following symptoms can also be identified:

Shortening of the neck, resulting in compression of the cerebrospinal fluid and nerve roots;
Decreased mobility of the vertebrae of the neck;
Kyphosis (curvature of the spine with a convexity at the back);
In some cases, cleft palate and myopathy may develop.

Let's look at how deviations manifest themselves at different ages:

1-2 years. A child with a pathology will be less mobile than his peers, gets tired quickly, and has a waddling (“duck-like”) gait.
3-6 years. Painful sensations in the joints, lumbar lordosis, the vertebrae become denser, and changes also occur in the epiphysis.
From 8 years and older. There are signs of deforming arthrosis, pain not only during movements, but also at rest, contractures in large joints, and dislocation of the patella. It is also possible to increase body temperature, develop acute arthritis, and severe pain in the joints, especially in the hip.

A disease diagnosed late or untreated and neglected can lead to serious consequences - scoliosis, lordosis, deformation of the pelvic and knee joints, which may require surgical interventions.

For early diagnosis, it is necessary to closely monitor the child's development, especially during the period when he learns to walk. This way you can help your child in a timely manner, eliminating possible complications in the future. Treatment of the disease at an older age is quite difficult, since the child’s growth slows down, body proportions are disrupted, and the torso becomes shortened.

Congenital malformations of the skeleton. 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 option 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; the general condition 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. An 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.

Surgical treatment of 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. For mild contracture, osteotomy is performed according to Repka; for severe contracture, metaplasia is performed according to Wreden. 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. On the 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. 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 are eliminated 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 deformations 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 is a disease in which individual nodes or several foci can become 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 (Schmidt, 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 Schmidt, 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 device.

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 mucopolysaccharidosis . 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: lengthening of the tibia with the Volkov-Oganesyan or Ilizarov apparatus and lengthening of the thigh with a rod apparatus. With such a combination

How is spondyloepiphyseal dysplasia diagnosed?

With such a disease, it is important to realize that early diagnosis still plays a decisive role. Then there will be more chances for cure, and the prognosis will be more favorable.

Diagnostic stages:

If you suspect dysplasia in a child or simply decide to undergo a preventive examination of the baby, then you should contact an orthopedist or neonatologist (a doctor who studies the growth, development and pathologies of newborns).
To confirm or refute the diagnosis, radiography of the joints is required.
If necessary, ultrasound examination and MRI are prescribed.
Hereditary history is studied, and genetic tests can be performed at the molecular level.

If you already have pictures, be sure to show them to the doctor; after comparing, he will be able to make the correct diagnosis and begin treatment as quickly as possible.

For an adult, a simple examination is enough to make a diagnosis, since the signs of the disease are already clearly expressed.

Diagnostic methods

It is important to identify spondyloepiphyseal dysplasia of the upper and lower extremities at an early stage of development, then the chances of curing the patient are higher .

To diagnose the disease, doctors prescribe the following studies :

Examination of the patient by a neonatologist, orthopedist, geneticist, neurologist, ophthalmologist and surgeon.
X-ray of the upper and lower extremities.
Ultrasound examination (ultrasound).
Magnetic resonance imaging (MRI).
Computed tomography (CT).

The listed diagnostic methods are the most informative . They help doctors identify pathological changes in the human body in the early stages and establish an accurate diagnosis. MRI and CT scans allow you to see changes in the structure of bone tissue. Molecular genetic analysis determines the development of the disease based on microscopic examination.

Disease prognosis

Timely and early detection of pathology certainly ensures a positive result of the entire treatment. Only later detection of dysplasia leads to recurrence of the disease. After comprehensive and competent treatment, a person can lead a normal life, and children will not have problems during growth and development.

The main condition is not to overload the body with excessive physical and strength exercises, and to carry out a therapeutic set of exercises in a timely manner.

Detection of the disease at an older age and in adults is aggravated by the fact that some cartilaginous lesions eventually turn into tumor growths and the chance of recovery in a sick person is much less.

Are there preventive measures for the development of the disease?

Spondyloepiphyseal dysplasia is a hereditary disease, which means its occurrence is not possible to predict. But at the birth of each child, doctors must determine the health group and the risk of certain diseases. Therefore, increased loads on the bone apparatus are not recommended for children and adults who are prone to developing such pathologies.

In the future, they need to choose a profession that will not require long periods of standing or sitting. In infancy, such children should not be seated early and taught to walk.

It is quite difficult to predict the development of the disease in a child even before conception, but it is possible. To do this, you can undergo genetic consultation with relevant specialists and take genetic tests at the molecular level. During intrauterine development, it is important to undergo regular ultrasound examinations, especially in the 2nd-3rd trimester.

Treatment methods

Any form of spondyloepiphyseal dysplasia is a genetic disorder . In most cases, the pathology cannot be treated; doctors provide symptomatic therapy. Patients are prescribed painkillers and anti-inflammatory drugs, as well as agents that strengthen bone tissue.

If the diagnosis was established immediately after the baby was born , doctors prescribe additional physical therapy and massage. For older patients, they try by all means to alleviate their health condition so that they can simply take care of themselves.

Orthopedic devices

To strengthen the ligamentous apparatus and fixate joints, newborns and children under 6 months are recommended to use special orthopedic devices - Pavlik stirrups. Skeletal support devices reduce pain and deformity. It is necessary to wear orthopedic devices for a long time in order for the patient’s quality of life with spondyloepiphyseal dysplasia to improve.

Surgery

Surgical intervention is used in extremely difficult situations, since any surgery on the spine poses a risk to the patient’s life. The surgeon inserts a metal plate that realigns the spinal column.

Surgery is indicated for patients in the following situations:

with severe pain that cannot be eliminated with painkillers,
with a curvature of the spine of 75 degrees,
if complications arise that interfere with the functioning of the heart, lungs, or blood circulation.

Also, in case of ineffective treatment, doctors reduce dislocations under general anesthesia , after which they apply a coxite plaster cast to the patient. The operation allows you to stop the deformation of structures and improve the mobility of certain joints. Plastic surgery of joints and bones is performed strictly in the absence of contraindications.

Exercise therapy and massage

Treatment of spondyloepiphyseal dysplasia of the upper and lower extremities involves physical therapy :

To maintain correct posture in a standing position, contact the gymnastic wall with your buttocks, calves and heels.
Maintaining the starting position as indicated in point 1, move 2 steps away from the wall.
Lie on your back, straighten your head, torso and legs, align your arms at your sides. Raise your head and shoulders while maintaining a straight body position. Return to starting position.
Lie down and press your lumbar region to the floor. Stand up, maintaining correct posture and keeping your lower back in a constant position.