A Case Report of Multiple Epiphyseal Dysplasia

다발성 골단 이형성증 환자 보고

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. It is typically transmitted as an autosomal dominant trait though recessive forms have been described. The diagnosis is established on the basis of the positive roentgenographic findings in combination with the absence of biochemical abnormalities. We report a case of multiple epiphyseal dysplasia, which was improved by herbal medication.