CFC syndrome: report on three additional cases

Am J Med Genet. 1989 Aug;33(4):476-8. doi: 10.1002/ajmg.1320330412.

Abstract

We describe three patients, originating from three different Italian localities, affected by the cardio-facio-cutaneous (CFC) syndrome. In addition to a varying degree of mental retardation, these patients present characteristics consisting of a peculiar face with bitemporal frontal constriction and other anomalies involving the eyes, nose, ears, hair, skin, and heart that are consistent with this diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Ectodermal Dysplasia / diagnosis*
  • Facial Expression*
  • Failure to Thrive / complications
  • Female
  • Heart Defects, Congenital / diagnosis*
  • Humans
  • Intellectual Disability / diagnosis
  • Male
  • Motor Skills
  • Syndrome