Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients.
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.
Valdéz-de la Torre
M H
MH
Departamento de Genética, Hospital General Dr. Manuel Gea González, Mexico City, Mexico. fara@servidor.unam.mx
Quintana-García
M
M
Canún
S
S
D016569:Blepharophimosis / Q000235:genetics*; D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics; D019066:Facies; D005260:Female; D006801:Humans; D008297:Male; D008800:Mexico; D010641:Phenotype; D013577:Syndrome