Dysplasia epiphysialis hemimelica. A clinical and genetic study

The clinical features of nine new patients with dysplasia epiphysialis hemimelica are reported, with a long-term follow-up on a further seven patients who were described in the earliest case reports of this disease. Each of these 16 patients had only one leg involved, but 12 had multiple epiphyses affected. The distal femur, distal tibia and talus were the commonest sites and most patients presented with painless swelling or deformity. Wasting of the muscles of the affected leg was a common finding, and was occasionally disproportionate to the degree of disuse. One patient had the unique combination of involvement of the lateral and medial halves of different epiphyses in the same limb and another had unusual metaphysial changes. Diagnosis was often delayed despite typical radiographic appearances. There was no evidence for a genetic component in the aetiology nor was any common environmental factor identified. Treatment by local excision was generally effective for lesions in the vicinity of the knee, but some patients with involvement of the talus required arthrodesis around the ankle. The long-term prognosis appears to be good and so far only two of these patients have developed premature osteoarthritis.