title: Description of a new syndrome: auricular abnormalities and cleft lip in two sibs, in association with cleft palate and unusual opthalmological findings.
abstract: 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.
authors.affiliation: Merseyside and Cheshire Medical Genetics Service, Department of Clinical Genetics Department of Paediatric Opthalmology, Alder Hey Children's Hospital, Liverpool Department of Pathology, Great Ormond Street Hospital for Sick Children, London, UK.
authors.forename: Helen R
authors.initials: HR
authors.lastname: Murphy
authors.forename: Janet
authors.initials: J
authors.lastname: Birch
authors.forename: Claire
authors.initials: C
authors.lastname: Brooks
authors.forename: Arvind
authors.initials: A
authors.lastname: Chandna
authors.forename: Michael T
authors.initials: MT
authors.lastname: Ashworth
authors.forename: K Lynn
authors.initials: KL
authors.lastname: Greenhalgh
mesh_terms: D002971:Cleft Lip / Q000150:complications / Q000473:pathology*; D002972:Cleft Palate / Q000150:complications / Q000473:pathology*; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009216:Myopia / Q000150:complications / Q000151:congenital / Q000473:pathology*; D020417:Nystagmus, Congenital / Q000150:complications / Q000473:pathology*; D011247:Pregnancy; D013577:Syndrome