Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate

American Journal of Medical Genetics
S KorulaJ Salomonson

Abstract

We report on several individuals with bilateral cleft lip and palate, lagophthalmia, megaloblepharon, distichiasis, and ectropion of the lower eyelids, representing in total a distinct craniofacial syndrome. Eight cases (3 from 1 family) in ages ranging from 1-45 years were identified over a 7-year period in the Cleft Palate and Craniofacial Clinic at our center. All cases (3 male, 5 female) presented with bilateral cleft lip and palate and lagophthalmia. Birth weight, growth, and development were normal in all cases, except for one who probably has familial small stature. Five of the 8 cases have distichiasis, and 5 have ectropion in varying degrees; dental findings consisted of hypodontia in 5 and delayed dentition in 1 patient. Hypoplastic nails and clinodactyly were confined to 3 members of 1 family. Clinical evidence in these cases and a review of the literature regarding distichiasis and lagophthalmia, either alone or in combination with ectropion, suggest that this craniofacial syndrome is most likely an autosomal-dominant trait. The 5 non-familial cases probably represent new mutations.

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Citations

Jun 3, 2005·Clinical Dysmorphology·Ingrid Winship, Salim Aftimos
Mar 11, 2006·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Akihiko IidaNobuyuki Ikeda
Jan 7, 2009·American Journal of Medical Genetics. Part a·Bryan D HallJohn M Opitz
Oct 16, 1996·American Journal of Medical Genetics·R J GorlinE Zackai
Aug 19, 2003·American Journal of Medical Genetics. Part a·Vera Lúcia Gil da Silva LopesElaine Sbroggio de Oliveira Rodini
Jan 20, 2018·European Journal of Human Genetics : EJHG·Anneke KievitGijs van Haaften
Jul 16, 1999·American Journal of Medical Genetics·M H Valdéz-de la TorreS Canún
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Feb 10, 2017·American Journal of Medical Genetics. Part a·Wael AwadhDavid P Rice
Apr 11, 2014·American Journal of Medical Genetics. Part a·Farouq K AbabnehSaif Alsaif

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