The cardio-facio-cutaneous syndrome: report of a patient and review of the literature

We report a 3-year-old girl with the cardiofacio-cutaneous (CFC) syndrome. She presented the typical combination of mild developmental delay, postnatal onset short stature with relative macrocephaly, a wide and prominent forehead with posteriorly rotated ears and down-slanting palpebral fissures, an atrial septal defect, and ectodermal abnormalities. All cases reported to date occurred sporadically. The actiology remains unknown; de novo mutations of an autosomal dominant gene seem the most likely explanation.