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Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia
Prachi Pragya Agarwal1, Ashok Srinivasan, Raju Sharma
1Department of Radiodiagnosis, All India Institute of Medical Sciences, 110029, New Delhi, India.
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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