Description of a new syndrome: auricular abnormalities and cleft lip in two sibs, in association with cleft palate and unusual opthalmological findings.
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.
Murphy
Helen R
HR
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.
Birch
Janet
J
Brooks
Claire
C
Chandna
Arvind
A
Ashworth
Michael T
MT
Greenhalgh
K Lynn
KL
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