Pyle metaphyseal dysplasia in an African child: Case report and review of the literature
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Date
2016
Authors
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Journal ISSN
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Publisher
Health & Medical Publishing Group
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.
Description
Keywords
Pyle disease (OMIM 265900), Metaphyseal dysplasia, Erlenmeyer-flask bone deformity, Skeletal dysplasia, South Africa
Citation
Wonkam, 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-S113