Bilateral hereditary micro-epiphysial dysplasia of the hips.

Abstract

1. A family is described of which several members in four generations suffered epiphysial growth disturbances of an unusual kind in the capital epiphyses of the femur, with shortness of stature. 2. This disorder forms one of a group of epiphysial growth disturbances which embraces several recognised disorders, whose effects on the epiphyses vary in severity. They may occur sporadically or they may be inherited as recessive or dominant characters. 3. Differentiation depends on the behaviour of the joint line–in other words, whether the epiphysis starts to show defects through inability to sustain the stress of weight bearing. In the most serious cases the picture is that of Morquio-Brailsford's disease; when the changes are less severe the appearance may be that of bilateral Perthes' disease. Differential diagnosis is no longer possible in later life, because the ultimate condition of the defective femoral heads is the same. Only in the hereditary cases is one able, by studying the capital epiphyses of the hip in childhood, to differentiate between the changes like those of Perthes' disease on the one hand, and micro-epiphysial dysplasia without necrosis on the other.