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

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dc.contributor.authorWonkam, A
dc.contributor.authorMakubalo, N
dc.contributor.authorRoberts, T
dc.contributor.authorChetty, M
dc.date.accessioned2016-10-05T15:15:37Z
dc.date.available2016-10-05T15:15:37Z
dc.date.issued2016
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.description.accreditationDHETen_US
dc.identifier.citationWonkam, A. et al. (2016). Pyle metaphyseal dysplasia in an African child: Case report and review of the literature. South African Medical Journal, 106(6): S110-S113en_US
dc.identifier.issn2078-5135
dc.identifier.urihttp://hdl.handle.net/10566/2441
dc.identifier.urihttp://dx.doi.org/10.7196/SAMJ.2016.v106i6.11011
dc.language.isoenen_US
dc.privacy.showsubmitterFALSE
dc.publisherHealth & Medical Publishing Groupen_US
dc.rightsThe South African Journal Medical Journal is an Open Access Journal and provides immediate open access to its content on the principle that making research freely available to the public supports a greater global exchange of knowledge.
dc.source.urihttp://dx.doi.org/10.7196/SAMJ.2016.v106i6.11011
dc.status.ispeerreviewedTRUE
dc.subjectPyle disease (OMIM 265900)en_US
dc.subjectMetaphyseal dysplasiaen_US
dc.subjectErlenmeyer-flask bone deformityen_US
dc.subjectSkeletal dysplasiaen_US
dc.subjectSouth Africaen_US
dc.titlePyle metaphyseal dysplasia in an African child: Case report and review of the literatureen_US
dc.typeArticleen_US

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