Rhizomelic spondyloepimetaphyseal dysplasia.
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.
Bieganski
T
T
Lipczyk
Z
Z
Kozlowski
K
K
D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000145:classification / Q000000981:diagnostic imaging*; D011859:Radiography