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- Title
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.
- Authors
Mende, Rose H.; Drake, David P.; Olomi, Raimos M.; Hamel, Ben C. J.
- 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.
- Subjects
DE Lange's syndrome; NEONATAL diseases; IMPERFORATE anus; DEVELOPMENTAL delay; GASTROINTESTINAL system abnormalities; CAUSES of death; GENETIC mutation
- Publication
Case Reports in Genetics, 2012, p1
- ISSN
2090-6544
- Publication type
Article
- DOI
10.1155/2012/247683