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A newborn with Cornelia de Lange syndrome: a case report

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth an...

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Detalles Bibliográficos
Autores principales: Uzun, Hakan, Senses, Dursun Ali, Uluba, Munevver, Kocabay, Kenan
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2611981/
https://www.ncbi.nlm.nih.gov/pubmed/19019222
http://dx.doi.org/10.1186/1757-1626-1-329
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author Uzun, Hakan
Senses, Dursun Ali
Uluba, Munevver
Kocabay, Kenan
author_facet Uzun, Hakan
Senses, Dursun Ali
Uluba, Munevver
Kocabay, Kenan
author_sort Uzun, Hakan
collection PubMed
description Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype. We present here a case of newborn with CdLs.
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spelling pubmed-26119812008-12-30 A newborn with Cornelia de Lange syndrome: a case report Uzun, Hakan Senses, Dursun Ali Uluba, Munevver Kocabay, Kenan Cases J Case Report Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype. We present here a case of newborn with CdLs. BioMed Central 2008-11-19 /pmc/articles/PMC2611981/ /pubmed/19019222 http://dx.doi.org/10.1186/1757-1626-1-329 Text en Copyright © 2008 Uzun et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Uzun, Hakan
Senses, Dursun Ali
Uluba, Munevver
Kocabay, Kenan
A newborn with Cornelia de Lange syndrome: a case report
title A newborn with Cornelia de Lange syndrome: a case report
title_full A newborn with Cornelia de Lange syndrome: a case report
title_fullStr A newborn with Cornelia de Lange syndrome: a case report
title_full_unstemmed A newborn with Cornelia de Lange syndrome: a case report
title_short A newborn with Cornelia de Lange syndrome: a case report
title_sort newborn with cornelia de lange syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2611981/
https://www.ncbi.nlm.nih.gov/pubmed/19019222
http://dx.doi.org/10.1186/1757-1626-1-329
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