An autosomal recessive variant of spondylo-epiphyseal dysplasia in three sibs

摘要

A report of one male and two female sibs with an unusual form of spondylo-epiphyseal dysplasia (SED) manifesting in late childhood. The anomalies are pronounced at the femoral head. There is platyspondyly with biconcave deformation and irregular vertebral endplates. As the parents are healthy autosomal recessive inheritance is likely.