Rhizomelic spondyloepimetaphyseal dysplasia

Abstract

Spondyloepipmetaphyseal dysplasias (SEMDS) are characterized by flattening of the vertebral bodies and epi-metaphyseal involvement of all the tubular bones. We report a 13 year-old boy with a novel variant of SEMD that presents with rhizomelic/mesomelic shortening of the extremities and normal head, hands and feet. Variable metaphyseal involvement and relatively large proximal humeral and knee epiphyses are further distinctive radiographic features in this patient.