Cardio-facio-cutaneous (CFC) syndrome: Report of an adult without mental retardation

Siranoush Manoukian, Faustina Lalatta, Angelo Selicorni, Gianluca Tadini, Riccardo Cavalli, Giovanni Neri

Research output: Contribution to journalArticlepeer-review


We report on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (CFC) syndrome, but without mental retardation. She had valvular and infundibular pulmonic stenosis, brittle and woolly hair with patchy alopecia, scant body hair, dry and hypohydrotic skin, and characteristic facial traits. To our knowledge, this is the first case of CFC syndrome without mental retardation but typical cutaneous findings.

Original languageEnglish
Pages (from-to)382-385
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - May 17 1996


  • cardio-facio-cutaneous syndrome
  • mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology


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