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.