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Cardio-Facio-Cutaneous syndrome: Three additional cases and review of the literature
Authors:Mirja Somer  Maarit Peippo  Kristiina Aalto-Korte  Annukka Ritvanen  Kirsti Maria Niemi
Abstract:We report on 3 patients with the cardio-faciocutaneous (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. © 1992 Wiley-Liss, Inc.
Keywords:multiple congenital anomalies/mental retardation (MCA/MR) syndrome  skin and hair abnormalities  congenital heart defect  electron microscopy of the skin  scanning electron microscopy of the hair
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