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

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Abstract

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
Volume63
Issue number2
DOIs
Publication statusPublished - May 17 1996

Keywords

  • cardio-facio-cutaneous syndrome
  • mental retardation

ASJC Scopus subject areas

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

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