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Eur J Pediatr. 1991 May;150(7):486-8.

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

Author information

1
Institut für Medizinische Genetik der Universität Zürich, Switzerland.

Abstract

We report a 3-year-old girl with the cardio-facio-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 aetiology remains unknown; de novo mutations of an autosomal dominant gene seem the most likely explanation.

PMID:
1915501
DOI:
10.1007/bf01958429
[Indexed for MEDLINE]

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