Blepharo-cheilo-dontic (BCD) syndrome

Am J Med Genet. 1996 Oct 16;65(2):109-12. doi: 10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N.

Abstract

Patients with the autosomal dominant ble-pharo-cheilo-dontic (BCD) syndrome have ectropion of lower eyelids, distichiasis of upper eyelids, euryblepharon, bilaterally cleft lip/palate, oligodontia, and conical crown form. Initially known under the eponym "Elschnig syndrome" (1912), BCD syndrome has been described in binary, ternary, and quaternary combination. There is overlap with the syndrome reported by Martínez et al. [1987], postaxial acrofacial dysostosis (Miller syndrome, Genée-Wiedemann syndrome), and a syndrome reported briefly by Warburg.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Cleft Lip / complications
  • Cleft Lip / genetics*
  • Cleft Palate / complications
  • Cleft Palate / genetics*
  • Ectropion
  • Eyelids / abnormalities*
  • Female
  • Humans
  • Hypertelorism / complications
  • Hypertelorism / genetics*
  • Infant
  • Male
  • Syndrome
  • Tooth Abnormalities / complications
  • Tooth Abnormalities / genetics