Shah-Waardenburg Syndrome

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg...

Descripción completa

Detalles Bibliográficos
Autores principales: Mahmoudi, Abdelhalim, Rami, Mohamed, Khattala, Khalid, Elmadi, Aziz, Afifi, My Abderrahmane, Youssef, Bouabdallah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617621/
https://www.ncbi.nlm.nih.gov/pubmed/23565307
http://dx.doi.org/10.11604/pamj.2013.14.60.1543
_version_ 1782265284030103552
author Mahmoudi, Abdelhalim
Rami, Mohamed
Khattala, Khalid
Elmadi, Aziz
Afifi, My Abderrahmane
Youssef, Bouabdallah
author_facet Mahmoudi, Abdelhalim
Rami, Mohamed
Khattala, Khalid
Elmadi, Aziz
Afifi, My Abderrahmane
Youssef, Bouabdallah
author_sort Mahmoudi, Abdelhalim
collection PubMed
description Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.
format Online
Article
Text
id pubmed-3617621
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher The African Field Epidemiology Network
record_format MEDLINE/PubMed
spelling pubmed-36176212013-04-05 Shah-Waardenburg Syndrome Mahmoudi, Abdelhalim Rami, Mohamed Khattala, Khalid Elmadi, Aziz Afifi, My Abderrahmane Youssef, Bouabdallah Pan Afr Med J Case Report Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities. The African Field Epidemiology Network 2013-02-12 /pmc/articles/PMC3617621/ /pubmed/23565307 http://dx.doi.org/10.11604/pamj.2013.14.60.1543 Text en © Abdelhalim Mahmoudi 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
Mahmoudi, Abdelhalim
Rami, Mohamed
Khattala, Khalid
Elmadi, Aziz
Afifi, My Abderrahmane
Youssef, Bouabdallah
Shah-Waardenburg Syndrome
title Shah-Waardenburg Syndrome
title_full Shah-Waardenburg Syndrome
title_fullStr Shah-Waardenburg Syndrome
title_full_unstemmed Shah-Waardenburg Syndrome
title_short Shah-Waardenburg Syndrome
title_sort shah-waardenburg syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617621/
https://www.ncbi.nlm.nih.gov/pubmed/23565307
http://dx.doi.org/10.11604/pamj.2013.14.60.1543
work_keys_str_mv AT mahmoudiabdelhalim shahwaardenburgsyndrome
AT ramimohamed shahwaardenburgsyndrome
AT khattalakhalid shahwaardenburgsyndrome
AT elmadiaziz shahwaardenburgsyndrome
AT afifimyabderrahmane shahwaardenburgsyndrome
AT youssefbouabdallah shahwaardenburgsyndrome

Ejemplares similares