Cardio-facio-cutaneous syndrome: three additional cases and review of the literature

Am J Med Genet. 1992 Nov 15;44(5):691-5. doi: 10.1002/ajmg.1320440531.

Abstract

We report on 3 patients with the cardio-facio-cutaneous (CFC) syndrome. Each of them was a sporadic case in the family. The severity of the psychomotor retardation varied from mild to severe. Skin manifestations were often minimal, but each patient had abnormally curly and brittle hair. A skin biopsy from one of the patients showed vellus hair cysts filled with keratin, and the hair follicles were surrounded by unusually thick fibrotic sheaths.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Facial Bones / abnormalities*
  • Female
  • Heart Defects, Congenital / diagnosis*
  • Humans
  • Infant
  • Infant, Newborn
  • Psychomotor Disorders / diagnosis*
  • Skin Abnormalities*
  • Skull / abnormalities*
  • Syndrome