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
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Received 10 October 2005 Accepted 20 October 2005