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Review Case Reports
Pyle metaphyseal dysplasia in an African child: Case report and review of the literature.
- A Wonkam, N Makubalo, T Roberts, and M Chetty.
- Division of Human Genetics, Department of Medicine, Faculty of Health Sciences University of Cape Town, South Africa. ambroise.wonkam@uct.ac.za.
- S. Afr. Med. J. 2016 May 25; 106 (6 Suppl 1): S110-3.
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.
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