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.
Nanda
Soni
S
Department of Dermatology and S.T.D., Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India. sonisood@hotmail.com
Rajpal
Monika
M
Reddy
Belum S N
BS
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D000293:Adolescent; D003937:Diagnosis, Differential; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D012868:Skin Abnormalities / Q000473:pathology; D013577:Syndrome