New dysmorphic syndrome with choanal atresia in siblings

Clin Dysmorphol. 1992 Jul;1(3):137-44.

Abstract

We report five children from three families who presented with bilateral choanal atresia associated with a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids and a characteristic dysmorphic appearance. The children were of normal intelligence. This syndrome is distinct from CHARGE association.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Child, Preschool
  • Choanal Atresia / genetics*
  • Chromosomes, Human, Pair 18
  • Deafness / genetics
  • Ear / abnormalities
  • Eye Abnormalities / genetics
  • Eyelids / abnormalities
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Ring Chromosomes
  • Syndrome