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.
The Fairbank Collection in the Radiology Department of the Royal National Orthopaedic Hospital contains details of 15 patients in the section labelled "Metaphysial Dysplasia and Dysostosis". This material has been reviewed, long-term follow-up of the patients carried out and the diagnosis revised, where indicated, according to current concepts. Of the 15 patients, all children, seven had recognisable bone dysplasias. The remaining eight, all listed under the heading "metaphysial fragility", had the characteristic radiographic features of "battered" babies.
A girl aged ten, of Cape Coloured stock, with typical features of parastremmatic dwarfism has been investigated. The clinical manifestations included disproportionate dwarfism, limb deformity, a short stiff neck, and marked thoracic kyphosis. The radiographic changes were dramatic, the skeleton having a "flocky" appearance due to patches of radiolucency in an irregular lattice of sclerosis. The metaphyses and epiphyses of the long bones were grossly expanded, and the vertebrae were flattened and distorted. The clinical and radiographic features of five other previously reported individuals with parastremmatic dwarfism were very similar to those of our patient. The differential diagnosis of this condition includes metatrophic dwarfism, diatrophic dwarfism and the spondylo-epiphysial dysplasias. However, the unique "flocky" radiographic appearance of the bones permits diagnostic precision. There is some evidence to indicate that parastremmatic dwarfism might be transmitted as an autosomal dominant, although this is by no means certain. The fact that our patient had seven normal siblings and unaffected parents would be compatible woth autosomal recessive inheritance.
1. The orthopaedic features of 100 patients with the Ehlers-Danlos syndrome are described. 2. The significance of these findings is discussed and comment is made of their relationship to the other stigmata of the syndrome.
