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Am J Perinatol 1992; 9(5/06): 398-400
DOI: 10.1055/s-2007-999274
ORIGINAL ARTICLE

© 1992 by Thieme Medical Publishers, Inc.

Prenatal Presentation of Congenital Chloride Diarrhea: Clinical Report and Review of the Literature

Nancy C. Rose, Paige Kaplan, Steven Scott, Andrew Kousoulis, Ronald Librizzi
  • Department of Obstetrics and Gynecology, Division of Reproductive Genetics, University of Pennsylvania Medical Center, Department of Clinical Genetics, Children's Hospital of Philadelphia, Department of Maternal-Fetal Medicine, Pennsylvania Hospital, Philadelphia, Pennsylvania, and Department of Ob/Gyn, West Jersey Hospital, Voorhees, New Jersey
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Publication Date:
04 March 2008 (online)

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ABSTRACT

A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed.