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The current report describes a case of a 16-year-old girl with a rare combination of nasal dysmorphology, anonychia and brachydactyly of hands and feet. The combination of hand and nasal malformations suggested a type B brachydactyly. Genetic investigation, however, revealed Cooks syndrome with unexplained facial dysmorphology. Concerning her cosmetic complaints, options for surgical treatment were discussed. It was decided to treat only the nasal deformity by open rhinoplasty, leaving the nail deformities undisturbed. Copyright © 2010 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Citation

Jaap G H Poerink, Moshe Kon, L P van Minnen. Brachydactyly, anonychia and a deformed nasal tip in a 16-year-old girl: a case report. Journal of plastic, reconstructive & aesthetic surgery : JPRAS. 2011 Jun;64(6):822-6

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PMID: 20926359

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