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Case Reports in Genetics
Volume 2012, Article ID 247683, 3 pages
http://dx.doi.org/10.1155/2012/247683
Case Report

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation

1Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania
2Department of Paediatrics and Child Health, Kilimanjaro Christian Medical University College, P.O. Box 2240, Moshi, Tanzania
3Department of Paediatric Surgery, Hospital for Sick Children, Great Ormond Street, London WC1N 3JH, UK
4Directorate of Postgraduate Studies, Kilimanjaro Christian Medical University College, P.O. Box 2240, Moshi, Tanzania

Received 30 October 2012; Accepted 21 November 2012

Academic Editors: P. Morrison and M. Suri

Copyright © 2012 Rose H. Mende et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus. This is the third report of Cornelia de Lange syndrome and imperforate anus.