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


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.

SUBMITTER: Mende RH 

PROVIDER: S-EPMC3529426 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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

Mende Rose H RH   Drake David P DP   Olomi Raimos M RM   Hamel Ben C J BC  

Case reports in genetics 20121210


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. ...[more]

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