Symptoms of multiple epiphyseal dysplasia?

summary

My colleague's daughter used to lose weight after suffering from multiple epiphyseal dysplasia, and she had a bad appetite and nutrition. Later, after treatment and more attention to diet, her condition gradually improved, and her physical condition improved. Now I will write down the symptoms of her daughter's multiple epiphyseal dysplasia for your reference.

Symptoms of multiple epiphyseal dysplasia?

Generally, there is no obvious abnormality at birth, and symptoms gradually appear after 2 years old. Walking late, unstable gait, knee varus and valgus, joint pain, limited function, scoliosis can occur at the age of 6-7. Short limbs, short stature, like a dwarf, but normal face, head, intellectual development is not affected. Clinical manifestations combined with X-ray examination, except Perthes disease, congenital coxa vara, Blount disease and epiphyseal punctate dysplasia can be diagnosed. Abnormal ratio of epiphyseal height to metaphyseal width of distal femur can be seen in most children. This index is very valuable for early diagnosis.

X-ray examination showed that the epiphysis of the whole body was slow, spotty, flat or split, and the density increased. The acetabulum widened and flattened, similar to Perthes disease. The femoral neck shaft angle decreased and the hip varus appeared. The femoral condyle is irregular, causing genu varus. The proximal tibia changes, causing tibial varus. The vertebral body was wedge-shaped. The corresponding epiphyseal changes were found in radius, ulna, wrist, metacarpus and metatarsus. The metaphysis showed compensatory changes, dilation or depression. With the increase of age, the epiphyseal changes gradually disappeared, but the flat deformity still existed. In severe cases, degenerative osteoarthropathy can be secondary.

Scoliosis may occur. The coronal, sagittal or axial position of the spine deviates from the normal position, resulting in abnormal appearance, which is called scoliosis. Scoliosis deformity refers to the deviation in coronal position. From the appearance, scoliosis can produce back bulge deformity, "razor back" deformity, and some even produce "funnel chest" or "chicken chest" deformity. At the same time, combined with this kind of back deformity, it can be accompanied by bilateral shoulder joint imbalance or pelvic imbalance, as well as the unequal length of both lower limbs, which can cause obvious local deformity, height reduction, chest and abdominal cavity volume reduction, Even cause the damage of nerve function, respiratory function, digestive function and so on. Scoliosis deformity refers to the deviation in coronal position. If necessary, surgical treatment.

matters needing attention

After birth, there is no obvious deformity, until 4-6 years old walking instability, wide transverse distance, short stature, only cause attention, before puberty can appear joint pain. Most cases only involved the limbs, not the spine and body. Scoliosis may occur in some cases. The affected limbs are generally symmetrical, especially the epiphysis of hip, shoulder, knee and ankle. The fingers are short and thick, the nails are short and blunt, and the holding ability of heavy people is obviously low.