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Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

Pediatric Radiology 33(12): 893-896

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.

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Accession: 050365940

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PMID: 13680008

DOI: 10.1007/s00247-003-1033-3

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