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

• Published in: Clinical dysmorphology Vol. 15; no. 1; pp. 33 - 35
• Main Authors: Murphy, Helen R., Birch, Janet, Brooks, Claire, Chandna, Arvind, Ashworth, Michael T., Greenhalgh, K. Lynn
• Format: Journal Article
• Language: English
• Published: England Wolters Kluwer Health, Inc. All rights reserved 01-01-2006
• Subjects: Cleft Lip - complications; Cleft Lip - pathology; Cleft Palate - complications; Cleft Palate - pathology; Female; Fetal Diseases - pathology; Humans; Infant, Newborn; Male; Myopia - complications; Myopia - congenital; Myopia - pathology; Nystagmus, Congenital - complications; Nystagmus, Congenital - pathology; Pregnancy; Syndrome
• ISSN: 0962-8827
• DOI: 10.1097/01.mcd.0000184968.84280.a8

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.