A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation

J Med Genet. 1988 Oct;25(10):711-3. doi: 10.1136/jmg.25.10.711.

Abstract

We report three sibs with congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, developmental retardation, relatively dark skin, and high axial triradius. The chromosomes of the three patients were normal and the parents were unrelated, healthy, and of normal intelligence. The mother denied infections, drinking, drug intake, or exposure to known teratogenic agents during each pregnancy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Facial Bones / abnormalities
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • Syndrome