The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?

Br J Dermatol. 1994 Aug;131(2):270-4. doi: 10.1111/j.1365-2133.1994.tb08504.x.

Abstract

The cardio-facio-cutaneous (CFC) syndrome has several features in common with the Noonan syndrome, but is distinguished by the presence of hyperkeratotic skin lesions, abnormal hair, and a lack of familial cases. We describe a family who clearly satisfy the criteria for the CFC syndrome, and show other features which have been reported in the Noonan syndrome but not in the CFC syndrome, namely a haemorrhagic diathesis and ocular abnormalities. This supports the concept that the CFC syndrome is a manifestation of the Noonan syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Face / pathology*
  • Female
  • Humans
  • Nails, Malformed / pathology*
  • Noonan Syndrome / classification
  • Noonan Syndrome / genetics
  • Noonan Syndrome / pathology*
  • Skin / pathology*