Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases

Clin Dysmorphol. 2001 Jan;10(1):15-8. doi: 10.1097/00019605-200101000-00003.

Abstract

The association of Hypertelorism, Microtia and Cleft lip and palate (HMC syndrome, MIM 239800) is a rare condition of autosomal recessive inheritance. A total of seven cases of HMC syndrome in five families have been hitherto reported. Here, we report two unrelated cases and put emphasis on the possible normal psychomotor development in this syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Cleft Lip / complications*
  • Cleft Lip / diagnosis
  • Cleft Lip / genetics
  • Cleft Palate / complications*
  • Cleft Palate / diagnosis
  • Cleft Palate / genetics
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Ear, External / abnormalities*
  • Humans
  • Hypertelorism / diagnosis*
  • Hypertelorism / genetics
  • Infant
  • Male
  • Syndrome