Patient with CHARGE syndrome

A two-years-old boy presenting multiple anomaly syndrome (congenital heart disease, Tetralogy of Fallot, bilateral ear anomalies, and micropenis) was consulted in the Pneumo-allergology unit of Rabat children hospital in Morocco. It was ruled out the possibility of multiple deformities caused by gen...

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Detalles Bibliográficos
Autores principales: Yajouri, Abdelhakim El, Mahraoui, Chafiq
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431410/
https://www.ncbi.nlm.nih.gov/pubmed/30923596
http://dx.doi.org/10.11604/pamj.2018.31.51.7029
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author Yajouri, Abdelhakim El
Mahraoui, Chafiq
author_facet Yajouri, Abdelhakim El
Mahraoui, Chafiq
author_sort Yajouri, Abdelhakim El
collection PubMed
description A two-years-old boy presenting multiple anomaly syndrome (congenital heart disease, Tetralogy of Fallot, bilateral ear anomalies, and micropenis) was consulted in the Pneumo-allergology unit of Rabat children hospital in Morocco. It was ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs.
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spelling pubmed-64314102019-03-28 Patient with CHARGE syndrome Yajouri, Abdelhakim El Mahraoui, Chafiq Pan Afr Med J Case Report A two-years-old boy presenting multiple anomaly syndrome (congenital heart disease, Tetralogy of Fallot, bilateral ear anomalies, and micropenis) was consulted in the Pneumo-allergology unit of Rabat children hospital in Morocco. It was ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs. The African Field Epidemiology Network 2018-09-24 /pmc/articles/PMC6431410/ /pubmed/30923596 http://dx.doi.org/10.11604/pamj.2018.31.51.7029 Text en © Abdelhakim El Yajouri et al. http://creativecommons.org/licenses/by/2.0/ The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of 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
Yajouri, Abdelhakim El
Mahraoui, Chafiq
Patient with CHARGE syndrome
title Patient with CHARGE syndrome
title_full Patient with CHARGE syndrome
title_fullStr Patient with CHARGE syndrome
title_full_unstemmed Patient with CHARGE syndrome
title_short Patient with CHARGE syndrome
title_sort patient with charge syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431410/
https://www.ncbi.nlm.nih.gov/pubmed/30923596
http://dx.doi.org/10.11604/pamj.2018.31.51.7029
work_keys_str_mv AT yajouriabdelhakimel patientwithchargesyndrome
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