[Cardiofaciocutaneous syndrome: case report and review of literature]

ABSTRACT

Cardiofaciocutaneous [CFC] syndrome is a rare genetic disorder. It characterized by a distinctive facial appearance, cardiac and cutaneous abnormalities and mental retardation. The heart defects include pulmonic stenosis, septal defect, hypertrophic cardiomyopathy and rhythm disturbances. Ectodermal abnormalities include sparse, friable and curly hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. We are reporting a 5-year-old boy with mental retardation, bitemporal narrowing, down slanting palpebral fissure, depressed nasal bridge, coarse face, sparse and brittle hair, high frontal hairline, hypohidrotic and dry skin, atopic dermatitis. We believe that our patient is a case of cardiofaciocutaneous syndrome