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Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome

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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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Authors and Affiliations

  1. St. Louis Children’s Hospital, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S. Kingshighway Blvd., St. Louis, MO, 63110, USA

    Thomas E. Herman & William H. McAlister

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  1. Thomas E. Herman
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  2. William H. McAlister
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Correspondence to Thomas E. Herman.

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Herman, T.E., McAlister, W.H. Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome. Pediatr Radiol 35, 202–205 (2005). https://doi.org/10.1007/s00247-004-1306-5

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  • DOI: https://doi.org/10.1007/s00247-004-1306-5

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