n South African Medical Journal - Pyle metaphyseal dysplasia in an African child : case report and review of the literature : the new millennium
|Article Title||Pyle metaphyseal dysplasia in an African child : case report and review of the literature : the new millennium|
|© Publisher:||Health and Medical Publishing Group (HMPG)|
|Journal||South African Medical Journal|
|Affiliations||1 University of Cape Town, 2 University of Cape Town, 3 University of Cape Town, 4 University of Cape Town, 5 University of the Western Cape and 6 University of the Western Cape|
|Publication Date||Jun 2016|
|Pages||110 - 113|
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.
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