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  • Title: Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.
    Author: Chrzanowska K, Fryns JP, Van den Berghe H.
    Journal: Am J Med Genet; 1989 Aug; 33(4):471-3. PubMed ID: 2596505.
    Abstract:
    We describe a girl with the cardio-facio-cutaneous (CFC) syndrome. She presented most of the characteristics of the new multiple congenital anomalies/mental retardation (MCA/MR) syndrome: unusual facial appearance and ectodermal symptoms, that is, abnormal hair and skin, ventricular septum defect, relative macrocephaly with large ventricles and cortical "atrophy," submucous cleft palate, and umbilical hernia. Her twin brother died shortly after birth and may have had the same malformation syndrome.
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