Wonkam, AMakubalo, NRoberts, TChetty, M2016-10-052016-10-052016Wonkam, 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-S1132078-5135http://hdl.handle.net/10566/2441http://dx.doi.org/10.7196/SAMJ.2016.v106i6.11011Pyle 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.enThe South African Journal Medical Journal is an Open Access Journal and provides immediate open access to its content on the principle that making research freely available to the public supports a greater global exchange of knowledge.Pyle disease (OMIM 265900)Metaphyseal dysplasiaErlenmeyer-flask bone deformitySkeletal dysplasiaSouth AfricaArticle