Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome

Clin Dysmorphol. 1996 Jan;5(1):61-4. doi: 10.1097/00019605-199601000-00009.

Abstract

Cardio-facio-cutaneous syndrome is characterized by complex congenital heart disease, characteristic facies, ectodermal abnormalities, growth failure, and mental retardation. It has been described as a distinctive entity from Noonan syndrome. This paper presents a child with cardio-facio-cutaneous syndrome born to a mother with Noonan syndrome. This is suggestive of cardio-facio-cutaneous syndrome being a variable expression of Noonan syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Face / abnormalities
  • Female
  • Growth Disorders* / congenital
  • Growth Disorders* / diagnosis
  • Growth Disorders* / genetics
  • Heart Defects, Congenital* / diagnosis
  • Heart Defects, Congenital* / genetics
  • Humans
  • Infant, Newborn
  • Intellectual Disability* / genetics
  • Noonan Syndrome* / diagnosis
  • Noonan Syndrome* / genetics
  • Syndrome