title: Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation.
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.
authors.affiliation: Laboratorio di Citogenetica, Istituti Clinici di Perfezionamento, Milano, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Manoukian
authors.forename: F
authors.initials: F
authors.lastname: Lalatta
authors.forename: A
authors.initials: A
authors.lastname: Selicorni
authors.forename: G
authors.initials: G
authors.lastname: Tadini
authors.forename: R
authors.initials: R
authors.lastname: Cavalli
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D000328:Adult; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000503:physiopathology; D005145:Face / Q000002:abnormalities; D005260:Female; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability