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

Am J Med Genet. 1999 Jul 16;85(2):157-9. doi: 10.1002/(sici)1096-8628(19990716)85:2<157::aid-ajmg10>3.3.co;2-1.

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.

Publication types

  • Case Reports

MeSH terms

  • Blepharophimosis / genetics*
  • Child
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Eye Abnormalities / genetics
  • Facies
  • Female
  • Humans
  • Male
  • Mexico
  • Phenotype
  • Syndrome