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

M H Valdéz-de la Torre, M Quintana-García, S Canún
Author Information
  1. M H Valdéz-de la Torre: Departamento de Genética, Hospital General Dr. Manuel Gea González, Mexico City, Mexico. fara@servidor.unam.mx

Abstract

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.

MeSH Term

Blepharophimosis
Child
Cleft Lip
Cleft Palate
Eye Abnormalities
Facies
Female
Humans
Male
Mexico
Phenotype
Syndrome

Word Cloud

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