title: Preaxial polydactyly in neurofibromatosis 1.
abstract: Although skeletal manifestations are a cardinal feature of neurofibromatosis 1, they are largely confined to the axial skeleton and tibiae. In contrast, congenital malformations of the extremities are less common in patients with neurofibromatosis 1, occurring in fewer than 10%. We describe a boy with bilateral, symmetrical polysyndactyly (preaxial polydactyly type IV) and neurofibromatosis 1. This report discusses peripheral skeletal malformations in neurofibromatosis 1 and their possible etiology.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine Texas Children's Hospital, Houston, Texas, USA.
authors.forename: Marwan
authors.initials: M
authors.lastname: Shinawi
authors.forename: Millan S
authors.initials: MS
authors.lastname: Patel
mesh_terms: D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications*; D017689:Polydactyly / Q000150:complications*; D011859:Radiography