Festschrift: Peter Beighton
Pyle metaphyseal dysplasia in an African child: Case report and review of the literature
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.
Authors' affiliations
A Wonkam, Division of Human Genetics, Department of Medicine, Faculty of Health Sciences University of Cape Town, South Africa
N Makubalo, Division of Human Genetics, Department of Medicine, Faculty of Health Sciences University of Cape Town, South Africa
T Roberts, Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa; and Faculty of Dentistry, University of the Western Cape, Bellville, South Africa
M Chetty, Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa; and Faculty of Dentistry, University of the Western Cape, Bellville, South Africa
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Article History
Date published: 2016-05-25
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