Cardio-facio-cutaneous syndrome: report of a case with a review of the literature.

A sporadic case of cardio-facio-cutaneous syndrome occurring in an 18-year-old girl is reported, with a brief review of pertinent literature, for its rarity and clinical interest. She had a characteristic cranio-facial appearance, a wide range of ectodermal defects, dystrophic nails and teeth, palmo-plantar keratoderma, typical short, coarse, unruly hair, pulmonic stenosis and mild mental retardation. She had no history of consanguinity and genetic studies did not reveal any abnormality.