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

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 molecula...

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Detalles Bibliográficos
Autores principales: Mende, Rose H., Drake, David P., Olomi, Raimos M., Hamel, Ben C. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529426/
https://www.ncbi.nlm.nih.gov/pubmed/23304577
http://dx.doi.org/10.1155/2012/247683
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author Mende, Rose H.
Drake, David P.
Olomi, Raimos M.
Hamel, Ben C. J.
author_facet Mende, Rose H.
Drake, David P.
Olomi, Raimos M.
Hamel, Ben C. J.
author_sort Mende, Rose H.
collection PubMed
description 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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spelling pubmed-35294262013-01-09 Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation Mende, Rose H. Drake, David P. Olomi, Raimos M. Hamel, Ben C. J. Case Rep Genet Case Report 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. Hindawi Publishing Corporation 2012 2012-12-10 /pmc/articles/PMC3529426/ /pubmed/23304577 http://dx.doi.org/10.1155/2012/247683 Text en Copyright © 2012 Rose H. Mende et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Case Report
Mende, Rose H.
Drake, David P.
Olomi, Raimos M.
Hamel, Ben C. J.
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
title Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
title_full Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
title_fullStr Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
title_full_unstemmed Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
title_short Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
title_sort cornelia de lange syndrome: a newborn with imperforate anus and a nipbl mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529426/
https://www.ncbi.nlm.nih.gov/pubmed/23304577
http://dx.doi.org/10.1155/2012/247683
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