Cardiofaciocutaneous syndrome with new ectodermal manifestations

J Med Genet. 1992 Jun;29(6):428-9. doi: 10.1136/jmg.29.6.428.

Abstract

We describe a 7 year old girl whose features satisfy the diagnosis of cardiofaciocutaneous syndrome. Her ectodermal features consist of fine, sparse hair, thin, opalescent nails, finger tip pads, generalised pigmentation of the skin, but no hyperkeratosis. Skin pigmentation and finger tip pads have not been previously reported in this syndrome. Twenty-two cases of CFC have been described but there is debate as to whether it is distinct from Noonan syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Child
  • Female
  • Fingers / pathology
  • Humans
  • Skin Pigmentation*
  • Syndrome