Cardio-facio-cutaneous syndrome: three additional cases and review of the literature.
We report on 3 patients with the cardio-facio-cutaneous (CFC) syndrome. Each of them was a sporadic case in the family. The severity of the psychomotor retardation varied from mild to severe. Skin manifestations were often minimal, but each patient had abnormally curly and brittle hair. A skin biopsy from one of the patients showed vellus hair cysts filled with keratin, and the hair follicles were surrounded by unusually thick fibrotic sheaths.
Somer
M
M
Department of Medical Genetics, University of Helsinki, Finland.
Peippo
M
M
Aalto-Korte
K
K
Ritvanen
A
A
Niemi
K M
KM
D003937:Diagnosis, Differential; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011596:Psychomotor Disorders / Q000175:diagnosis*; D012868:Skin Abnormalities; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome