Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation. (10th December 2012)

• Record Type: Journal Article
• Authors: Mende, Rose H.; Drake, David P.; Olomi, Raimos M.; Hamel, Ben C. J.
• Other Names: Morrison P. Academic Editor.; Suri M. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2012(2012)
• Publication Date: 2012-12-10
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2012/247683
• Languages: English
• ISSNs: 2090-6544

Abstract

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.