Browsing by Author "Makubalo, N"
Now showing 1 - 1 of 1
Results Per Page
Sort Options
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.