Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients

Autor: Torre, Ma. Hortensia Valdéz-de la, Quintana-García, Mónica, Canún, Sonia
Zdroj: American Journal of Medical Genetics. Part A; 16 July 1999, Vol. 85 Issue: 2 p157-159, 3p
Abstrakt: The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named blepharo-cheilo-dontic (BCD) syndrome. Different combinations of these signs have been found sporadically, with autosomal dominant inheritance. Ectropion of the lower eyelids, lagophthalmia, and bilateral cleft lip/palate appear to be the more common manifestations. We report on two unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these two patients had familial cleft lip/palate in two generations, probably as a variable expression of an autosomal dominant gene. Am. J. Med. Genet. 85:157–159, 1999. © 1999 Wiley-Liss, Inc.
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