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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...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2008
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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. |
format | Text |
id | pubmed-2611981 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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