Midline facial defects with ocular colobomata

Am J Med Genet. 1990 Sep;37(1):23-7. doi: 10.1002/ajmg.1320370107.

Abstract

We describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal "dysplasia." Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal "dysplasia." The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Coloboma / complications*
  • Coloboma / genetics
  • Developmental Disabilities / complications
  • Developmental Disabilities / genetics
  • Face / abnormalities*
  • Female
  • Genes, Recessive
  • Humans
  • Hypertelorism / complications
  • Hypertelorism / genetics
  • Infant
  • Iris / abnormalities*
  • Male
  • Nose / abnormalities
  • Syndrome