Multiple epiphyseal dysplasia

Introduction to multiple epiphyseal dysplasia Multiple occurrence of osteophyte dysplasia (multipleepiphysial dysplasia), also known as Catel disease, is a clinically rare bone dysplasia, an autosomal dominant hereditary disease, familial, but with large genetic variability, even in the same family It is also different. basic knowledge The proportion of illness: this disease is rare, the incidence rate is about 0.001%-0.003% Susceptible people: good in childhood Mode of infection: non-infectious Complications: scoliosis

Multiple causes of osteophyte dysplasia

Cause:

For the autosomal dominant hereditary disease, only the osteophyte cartilage is invaded, which directly causes the osteophyte to be blocked.

(two) pathogenesis

The pathological changes of this disease are irregular osteophytes and tarsal plates, lack of bone-like tissue and replaced by fibrous connective tissue, irregular arrangement of chondrocytes, trabecular bone disorder, markedly reduced bone density, and abnormal ossification of most epiphyses.

Multiple osteophyte dysplasia prevention

Symptoms usually appear after 4 years of age, manifested as joint pain, dyskinesia and gait instability. The lesions only invade and callus, which is most pronounced in childhood, especially in the 11-12 age group. The symptoms can be improved with aging after puberty.

Infants with multiple epiphyseal dysplasia have no obvious deformity after birth, until the 4-6 years old walking is unstable, the lateral distance is wide, and the individual is short, which attracts attention, and joint pain can occur before puberty. In most cases, only the extremities are involved, and the spine and the torso are not involved. In some cases, scoliosis may occur. The involvement of the limbs is generally symmetrical, with the epiphysis of the hip, shoulder, knee, and ankle joints being more pronounced. The fingers are short and thick, the nails are short and blunt, and the ability to hold the objects is significantly lower. The height is no more than 153cm. Exfoliative osteochondritis, knee, valgus, etc., but no mental retardation.

Multiple osteophyte dysplasia complications Complications scoliosis

Can be complicated by scoliosis.

The coronal, sagittal or axial position of the spine deviates from the normal position, and the morphological abnormality occurs, which is called the sacral deformity. Scoliosis deformities specifically refer to deviations in the coronal position. From the shape, the side bend can produce back bulge deformity, resulting in "razor back" deformity, and some even produce "funnel chest" or "chicken chest" deformity, combined with this back deformity, can be accompanied by bilateral shoulder joint imbalance or pelvis Unbalance, as well as unequal length of the lower limbs, can cause significant local deformity, reduced height, reduced chest and abdominal volume, and even damage to nerve function, respiratory function, and digestive function. Scoliosis deformities specifically refer to deviations in the coronal position. Surgical treatment if necessary.

Multiple osteophyte dysplasia common symptoms gait instability knee valgus valgus or hip varus spine and limb deformity hip varus joint pain post-knee swelling pain,...

There is no obvious abnormality at birth, symptoms gradually appear after 2 years old, walking late, gait is unstable, knees, valgus, joint pain, limited function, scoliosis can occur at 6 to 7 years old, limbs are short The figure is short and shaped like a dwarf, but the face and head are normal and the mental development is not affected.

Examination of multiple epiphyseal dysplasia

X-ray examination, the body bones appear sluggish, spotted, flat or split, increased density, acetabular widening, flattening, similar to Perthes disease, femoral neck dry angle reduction, hip varus, femoral condyle irregular, Causes knee varus, proximal humerus changes, causing varus varus, vertebral body wedge deformation, sputum, ulnar, wrist, palm, humerus, etc. can occur corresponding to the epiphyseal changes, cognac end with compensatory changes, expanding Or depression, with the increase of age, the change of the epiphysis gradually disappears, but the flat deformity still exists, and severe cases may be secondary to degenerative osteoarthrosis.

Diagnosis and diagnosis of multiple epiphyseal dysplasia

Clinical manifestations combined with X-ray examination, except for Perthes disease, congenital hip varus, Blount disease and epiphyseal dysplasia can be diagnosed, the ratio of the distal femoral epiphysis height to the metaphyseal width is abnormal in most children, this indicator for Early diagnosis is very valuable.

The disease should be differentiated from Perthes disease, congenital hip varus, Blount disease, and epiphyseal dysplasia.

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