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dc.contributor.authorWonkam, A.
dc.contributor.authorMakubalo, N.
dc.contributor.authorRoberts, T.
dc.contributor.authorChetty, M.
dc.date.accessioned2018-04-25T07:21:42Z
dc.date.available2018-04-25T07:21:42Z
dc.date.issued2016-06
dc.identifier.citationWonkam, A. et al. (2016). Pyle metaphyseal dysplasia in an African child: case report and review of the literature: the new millennium. South African Medical Journal, 106(Supplement 1): 110-113en_US
dc.identifier.issn0256-9574
dc.identifier.urihttp://hdl.handle.net/10566/3613
dc.description.abstractPyle 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.en_US
dc.language.isoenen_US
dc.publisherHealth and Medical Publishing Groupen_US
dc.subjectPyleen_US
dc.subjectmetaphysealen_US
dc.subjectdysplasiaen_US
dc.subjectAfricanen_US
dc.subjectchilden_US
dc.titlePyle metaphyseal dysplasia in an African child: case report and review of the literatureen_US
dc.typeArticleen_US


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