Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome

J Med Genet. 1988 Jan;25(1):41-3. doi: 10.1136/jmg.25.1.41.

Abstract

To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Blepharoptosis / genetics*
  • Body Height
  • Bone Diseases, Developmental / genetics*
  • Child
  • Child, Preschool
  • Coloboma / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Hypertelorism / genetics*
  • Intellectual Disability / genetics*
  • Iris / abnormalities*
  • Male
  • Syndrome