Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases

Clin Genet. 1992 Oct;42(4):206-9. doi: 10.1111/j.1399-0004.1992.tb03239.x.


We describe two new cases of cardio-facio-cutaneous (CFC) syndrome, and underline the clinical variability of the CFC phenotype in our two patients presenting with border-line psychomotor development. The first patient showed some additional clinical manifestations, such as cryptorchidism and scoliosis, and the second one had atypical skin lesions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cryptorchidism
  • Female
  • Heart Septal Defects, Atrial*
  • Hemangioma
  • Humans
  • Infant
  • Intellectual Disability*
  • Male
  • Pulmonary Valve Stenosis*
  • Scoliosis
  • Skin Neoplasms
  • Syndrome