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Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Eur+J+Pediatr 1991 ; 150 (7): 486-8 Nephropedia Template TP
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The cardio-facio-cutaneous syndrome: report of a patient and review of the literature #MMPMID1915501
Bottani A; Hammerer I; Schinzel A
Eur J Pediatr 1991[May]; 150 (7): 486-8 PMID1915501show ga
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.