The variable manifestations of dysplasia epiphysealis hemimelica

Abstract

Dysplasia epiphysealis hemimelica (DEH) is an osteocartilaginous overgrowth involving one or multiple epiphyses or ossification centers, usually in a lower extremity on one side of the body. Characteristically the involvement is hemimelic i.e. either the medial or lateral part of the ossification center is involved. We have studied 24 patients with DEH and are adding 15 new cases to the literature. Because of the variable manifestations of the dysplasia and its different degrees of involvement in the affected children, we have subdivided it into localized, classical and generalized forms. In the generalized form, there is involvement of a whole lower extremity from the pelvis to the foot, and some of these patients show megaepiphyses with enlargement of a whole epiphyseal center, not only its medial or lateral part. We have also described and illustrated other special features of the dysplasia especially the advanced bone age and the metaphyseal and growth plate involvement.