Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

J Med Genet. 1986 Jun;23(3):242-4. doi: 10.1136/jmg.23.3.242.

Abstract

We report two sisters with mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. A female paternal cousin has the same anomalies, but without congenital heart disease. The chromosomes of these patients are normal and the parents are non-consanguineous.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Blepharoptosis / genetics*
  • Child
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Heart Septal Defects / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Syndrome
  • Tooth Abnormalities / genetics*