The cardio-facio-cutaneous syndrome: report of a patient and review of the literature.
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.
Institut für Medizinische Genetik der Universität Zürich, Switzerland.
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Bottani
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Hammerer
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Schinzel
D000015:Abnormalities, Multiple; D003876:Dermatitis, Atopic; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital; D006344:Heart Septal Defects, Atrial; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D012868:Skin Abnormalities; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome