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Cardio‐facio‐cutaneous (CFC) syndrome: Report of a new patient

1989; Wiley; Volume: 33; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320330410

1096-8628

Krystyńa Chrzańowska, Jean‐Pierre Fryns, Herman Van den Berghe,

Connective tissue disorders research

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.