Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome

We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD)...

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Detalles Bibliográficos
Autores principales: Xie, Chun-Hong, Yang, Jian-Bin, Gong, Fang-Qi, Zhao, Zheng-Yan
Formato: Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2615354/
https://www.ncbi.nlm.nih.gov/pubmed/18581602
http://dx.doi.org/10.3349/ymj.2008.49.3.500
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author Xie, Chun-Hong
Yang, Jian-Bin
Gong, Fang-Qi
Zhao, Zheng-Yan
author_facet Xie, Chun-Hong
Yang, Jian-Bin
Gong, Fang-Qi
Zhao, Zheng-Yan
author_sort Xie, Chun-Hong
collection PubMed
description We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.
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spelling pubmed-26153542009-02-02 Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome Xie, Chun-Hong Yang, Jian-Bin Gong, Fang-Qi Zhao, Zheng-Yan Yonsei Med J Case Report We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS. Yonsei University College of Medicine 2008-06-30 2008-06-20 /pmc/articles/PMC2615354/ /pubmed/18581602 http://dx.doi.org/10.3349/ymj.2008.49.3.500 Text en Copyright © 2008 The Yonsei University College of Medicine http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Xie, Chun-Hong
Yang, Jian-Bin
Gong, Fang-Qi
Zhao, Zheng-Yan
Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
title Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
title_full Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
title_fullStr Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
title_full_unstemmed Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
title_short Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
title_sort patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2615354/
https://www.ncbi.nlm.nih.gov/pubmed/18581602
http://dx.doi.org/10.3349/ymj.2008.49.3.500
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