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Preaxial polydactyly in neurofibromatosis 1

Shinawi, Marwana b; Patel, Millan S.a b

doi: 10.1097/MCD.0b013e3280e1cc54
SHORT CASE REPORT
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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.

aDepartment of Molecular and Human Genetics, Baylor College of Medicine

bTexas Children's Hospital, Houston, Texas, USA

Correspondence to Millan S. Patel, Department of Medical Genetics, University of British Columbia, C234, 4500 Oak St., Vancouver, BC V6H 3N1, Canada

Tel: +1 604 875 2000 x6847; fax: +1 604 875 2376;

e-mail: mpatel@cw.bc.ca

Received 10 August 2006 Accepted 31 January 2007

© 2007 Lippincott Williams & Wilkins, Inc.