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    Pyle metaphyseal dysplasia in an African child: case report and review of the literature

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    Wonkam_Pyle metaphyseal dysplasia_2016.pdf (243.4Kb)
    Date
    2016-06
    Author
    Wonkam, A.
    Makubalo, N.
    Roberts, T.
    Chetty, M.
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    Abstract
    Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger and wrist fractures following minor trauma. The radiological findings revealed abnormally broad metaphyses of the tubular bones, known as Erlenmeyer-flask bone deformity, and mild cranial sclerosis, both hallmarks of the condition. We report the first case in a patient with African ancestry, which could help in the gene discovery of this rare autosomal recessive skeletal dysplasia with unknown mutations.
    URI
    http://hdl.handle.net/10566/3613
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    • Research Articles (Dentistry) [232]

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