title: Cardio-facio-cutaneous syndrome: three additional cases and review of the literature.
abstract: 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.
authors: Department of Medical Genetics, University of Helsinki, Finland.
authors: M
authors: M
authors: Somer
authors: M
authors: M
authors: Peippo
authors: K
authors: K
authors: Aalto-Korte
authors: A
authors: A
authors: Ritvanen
authors: K M
authors: KM
authors: Niemi
mesh_terms: 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