Epiphyseal Dysplasia Of Femoral Head, Myopia, And Deafness

In 3 sons of third-cousin parents, Pfeiffer et al. (1973) described a syndrome of femoral capital epiphyseal dysplasia, severe myopia, and deafness. Stature was normal. Although the femoral heads showed the most striking epiphyseal dysplasia, the changes were apparently not limited to that site. The authors found no reported case that seemed identical to these.