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Description of a new syndrome: auricular abnormalities and cleft lip in two sibs, in association with cleft palate and unusual opthalmological findings

Murphy, Helen R.a; Birch, Janeta; Brooks, Clairea; Chandna, Arvindb; Ashworth, Michael T.c; Greenhalgh, K. Lynna

doi: 10.1097/01.mcd.0000184968.84280.a8
ORIGINAL ARTICLES
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We describe the association of auricular abnormalities and cleft lip with or without cleft palate in two siblings. One sibling has postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus of 23 weeks gestation with severe cleft lip, cleft palate and external ear abnormalities. As this constellation of features has not been described together before, we believe this is a new syndrome.

aMerseyside and Cheshire Medical Genetics Service, Department of Clinical Genetics

bDepartment of Paediatric Opthalmology, Alder Hey Children's Hospital, Liverpool

cDepartment of Pathology, Great Ormond Street Hospital for Sick Children, London, UK

Correspondence and requests for reprints to Dr H. Murphy, Department of Clinical Genetics, Alder Hey Children's Hospital, Eaton Road, Liverpool L12 2AP, UK

Tel: +44 (0) 151 252 5238; fax: +44 (0) 151 252 5951; e-mail: hmurphy@liv.ac.uk

Received 10 October 2005 Accepted 20 October 2005

© 2006 Lippincott Williams & Wilkins, Inc.