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.
|Number of pages||4|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - May 17 1996|
- cardio-facio-cutaneous syndrome
- mental retardation
ASJC Scopus subject areas
- Neuropsychology and Physiological Psychology