A Case of Metaphyseal Chondrodysplasia / 대한정형외과학회잡지

ABSTRACT

Metaphyseal Chondrodysplasia is a disease characterized by metaphyseal ossification leading to shortening of stature. The extremities, especially lower, and mainly affected, resulting in a disproportionate drarfing which spares the trunk. The first case was reported in a patient with irregular metaphysis of lower extremities and hands, and severe shorteness of stature by Murk Jansen in 1934. A milder form of Metaphyseal Chondrodysplasia was noted in 1949 by Schmid, which is more common and transmitted in autosomal dominant. Mckusick recently reported another form of Metaphseal Chondrodysplasia, and other types were reported, but they are extremly rare, and of little clinical significance. In the Schmid type, patient is normal at birth, but characteristically shortness of stature, bowed leg, and waddling gait developed at biginning of walking. Ali labratory findings including serum calcium level, phosphorous, alkaline phosphatase, renal function test is normal in Metaphyseal Chondrodysplasia. The most difficult differential diagnosis is Vitamin D-resistant rickets in clinical and x-ray findings. The only treatment is careful observation and properly timed corrective surgery. Authors experienced on case of Schmid type of Metaphyseal Chondrodysplasia which had been treated with Vitamin D under impression of rickets for 1 year before the case was consulted to Orthopedic Department. Proximal tibial osteotomy and subtrochanteric valgus osteotomy were performed for the correction of genu varum and coxa vara deformity with satisfactory results for one year follow up.