Spondylo-Epi-Metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis

1. Spondylo-epi-metaphyseal dysplasia with progressive, severe kyphoscoliosis and gross joint laxity is a distinctive entity. The clinical and radiographic manifestations of seven affected children are presented and it is concluded that this disorder is probably more common than previously suspected. Autosomal recessive transmission is likely. 2. Skeletal survey is indicated in all patients with infantile idiopathic scoliosis, kyphosis, or kyphoscoliosis. In this context, radiographic studies of the pelvis may be of great diagnostic value. 3. Referal for expert orthopaedic management is essential for all patients with this disorder, as profound disability with pulmonary and spinal complications may be expected. © 1980 International Skeletal Society.