Browsing by Author "Wonkam, A"
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Item Pyle metaphyseal dysplasia in an African child: Case report and review of the literature(Health & Medical Publishing Group, 2016) Wonkam, A; Makubalo, N; Roberts, T; Chetty, MPyle 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.