title: 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.
authors.affiliation: Division of Human Genetics, Department of Medicine, Faculty of Health Sciences University of Cape Town, South Africa. ambroise.wonkam@uct.ac.za.
authors.forename: A
authors.initials: A
authors.lastname: Wonkam
authors.forename: N
authors.initials: N
authors.lastname: Makubalo
authors.forename: T
authors.initials: T
authors.lastname: Roberts
authors.forename: M
authors.initials: M
authors.lastname: Chetty
mesh_terms: D044383:Black People; D002648:Child; D005383:Finger Injuries / Q000209:etiology; D050723:Fractures, Bone / Q000209:etiology*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D014954:Wrist Injuries / Q000209:etiology