The cardio-facio-cutaneous syndrome: report of a patient and review of the literature
- 1 May 1991
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 150 (7) , 486-488
- https://doi.org/10.1007/bf01958429
Abstract
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.Keywords
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