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  • Title: Rhizomelic spondyloepimetaphyseal dysplasia.
    Author: Bieganski T, Lipczyk Z, Kozlowski K.
    Journal: Clin Dysmorphol; 2001 Oct; 10(4):285-8. PubMed ID: 11666005.
    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.
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