Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?

J Med Genet. 1993 May;30(5):425-6. doi: 10.1136/jmg.30.5.425.

Abstract

Three children have been reported with a combination of iris coloboma, ptosis, hypertelorism, and growth and mental retardation with possible autosomal recessive inheritance. We report a single case whose clinical features encompass this syndrome and Noonan syndrome, and discuss the possible interpretations of this complex phenotype.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Blepharoptosis / diagnosis*
  • Coloboma / diagnosis*
  • Diagnosis, Differential
  • Humans
  • Hypertelorism / diagnosis*
  • Intellectual Disability / diagnosis*
  • Iris / abnormalities
  • Male
  • Noonan Syndrome / diagnosis*
  • Syndrome