Cardio-facio-cutaneous syndrome: a case report.
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.
Ribeiro de Castro
Maria Cristina
MC
Sector of Dermatology, HUCFF-UFRJ, School of Medicine, Universidade Federal do Rio de Janeiro, Brazil.
de Aquino
Adriana Moura
AM
Camilo
Carlos
C
Maceira
Juan Piñeiro
JP
Ramos-e-Silva
Marcia
M
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