Journal List > J Korean Orthop Assoc > v.26(1) > 1115021

Kang, Kim, Lee, and Park: Multiple Epiphyseal Dysplasia in One Family

Abstract

Multiple epiphyseal dysplasia is an uncommon disorder, which was first described by Fairbank in 1935, characterized by irregularity in development of the epiphysis that manifests itself as late appearance and mottling of the ossification centers, knobby joints, stubby digits and minimal shortness of stature. There is little or no vertebral involvement and normal intelligence. The diagnosis is estabhished on the basis of the positive roentgenographic findings in combination with the absence of biochemical abnormalities. The inheritance is almost always as an autosomal dominant trait. In some cases, however, it is autosomal recessive. We have experienced a familial multiple epiphyseal dysplasia, mother and two siblings, which was thought to be an autosomal dominat inheritance.

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