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Case Reports
. 2005 Feb;35(2):202-5.
doi: 10.1007/s00247-004-1306-5. Epub 2004 Oct 15.

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome

Thomas E Herman  1 , William H McAlister
Affiliations
Case Reports

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome

Thomas E Herman et al. Pediatr Radiol. 2005 Feb.

Abstract

Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts.

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