title: Cardio-facio-cutaneous syndrome: a case report.
abstract: Cardio-facio-cutaneous syndrome is a genetic disorder with a characteristic facies, abnormal skin and hair, mental retardation and congenital heart disease. It may be confused with Noonan's syndrome, which has a familial pattern and does not present hyperkeratotic skin lesions and abnormal hair, and there are few cases reported in the literature. We describe the first case of typical cardio-facio-cutaneous syndrome observed in Brazil.
authors.affiliation: Sector of Dermatology, HUCFF-UFRJ, School of Medicine, Universidade Federal do Rio de Janeiro, Brazil.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Ribeiro de Castro
authors.forename: Adriana Moura
authors.initials: AM
authors.lastname: de Aquino
authors.forename: Carlos
authors.initials: C
authors.lastname: Camilo
authors.forename: Juan Piñeiro
authors.initials: JP
authors.lastname: Maceira
authors.forename: Marcia
authors.initials: M
authors.lastname: Ramos-e-Silva
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D001938:Brazil; D019066:Facies; D005260:Female; D006201:Hair Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D012871:Skin Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology*; D013577:Syndrome