Bilateral hereditary micro-epiphyseal dysplasia : clinical and genetic analysis of a Dutch family

This thesis is based upon a study of a Dutch family with a unique skeletal dysplasia first described by Elsbach in 1959. Because of the presence of microepiphyses, he called this disorder bilateral hereditary micro-epiphyseal dysplasia (BHMED) and distinguished it from more common multiple epiphyseal dysplasia (MED). Clinical features were early onset of bilateral symmetric synchronic complaints of pain in hip and knee, and radiographically small epiphyses of the hip joint. Although Elsbach regarded this disorder as different from common multiple epiphyseal dysplasia, others suggested that it... Mehr ...