Multiple epiphyseal dysplasia: a longitudinal family study.

The natural history of multiple epiphyseal dysplasia in a 74-member kindred was monitored for 17 years. Genetic transmission was clearly autosomal dominant, with variable expressivity. Onset of symptoms, joint involvement, and severity of deformity in 24 definitely affected individuals were somewhat variable, though short stature and hip involvement were characteristic. In several cases patients displayed the clinical and radiographic course of such diverse diseases as Blount's, Perthes, and osteochondritis dissecans, suggesting a common developmental etiology. Longitudinal study suggests that non-weightbearing in the prepubertal patient may limit evolving hip deformity. Experience with surgical interventions is discussed.