2. Academic Validation
  3. Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

  • Pediatr Radiol. 2003 Dec;33(12):893-6. doi: 10.1007/s00247-003-1033-3.
Prachi Pragya Agarwal 1,  Ashok Srinivasan,  Raju Sharma,  Madhulika Kabra,  Arun Kumar Gupta
Affiliations

Affiliation

  • 1 Department of Radiodiagnosis, All India Institute of Medical Sciences, 110029, New Delhi, India.
PMID: 13680008 DOI: 10.1007/s00247-003-1033-3
Abstract

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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