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

Rose H Mende, David P Drake, Raimos M Olomi, Ben C J Hamel
Case Reports in Genetics 2012, 2012: 247683
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.

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