Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia.
A rare case of spondylo-megaepiphyseal-metaphyseal dysplasia is reported in a 10-year-old boy. The features were metaphyseal dysplasia, markedly defective ossification of vertebral body centres and enlarged epiphyses. Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and cleidocranial dysplasia, the presence of several unusual radiological findings sets it apart.
D002648:Child; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed