Association syndrome de Williams et insuffisance surrénalienne

Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an as...

Descripción completa

Detalles Bibliográficos
Autores principales: Rchachi, Meryem, Larwanou, Maazou Mahamane, El Ouahabi, Hanan, Ajdi, Farida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511716/
https://www.ncbi.nlm.nih.gov/pubmed/28748012
http://dx.doi.org/10.11604/pamj.2017.27.10.8177
_version_ 1783250386941902848
author Rchachi, Meryem
Larwanou, Maazou Mahamane
El Ouahabi, Hanan
Ajdi, Farida
author_facet Rchachi, Meryem
Larwanou, Maazou Mahamane
El Ouahabi, Hanan
Ajdi, Farida
author_sort Rchachi, Meryem
collection PubMed
description Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an assessment of degree of failure to thrive. Its association with primary adrenal insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and molecular analysis. Its management consists of the implementation of treatment for adrenal insufficiency associated with a clinico-biological monitoring.
format Online
Article
Text
id pubmed-5511716
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher The African Field Epidemiology Network
record_format MEDLINE/PubMed
spelling pubmed-55117162017-07-26 Association syndrome de Williams et insuffisance surrénalienne Rchachi, Meryem Larwanou, Maazou Mahamane El Ouahabi, Hanan Ajdi, Farida Pan Afr Med J Case Report Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an assessment of degree of failure to thrive. Its association with primary adrenal insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and molecular analysis. Its management consists of the implementation of treatment for adrenal insufficiency associated with a clinico-biological monitoring. The African Field Epidemiology Network 2017-05-05 /pmc/articles/PMC5511716/ /pubmed/28748012 http://dx.doi.org/10.11604/pamj.2017.27.10.8177 Text en © Meryam Rchachi 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
Rchachi, Meryem
Larwanou, Maazou Mahamane
El Ouahabi, Hanan
Ajdi, Farida
Association syndrome de Williams et insuffisance surrénalienne
title Association syndrome de Williams et insuffisance surrénalienne
title_full Association syndrome de Williams et insuffisance surrénalienne
title_fullStr Association syndrome de Williams et insuffisance surrénalienne
title_full_unstemmed Association syndrome de Williams et insuffisance surrénalienne
title_short Association syndrome de Williams et insuffisance surrénalienne
title_sort association syndrome de williams et insuffisance surrénalienne
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511716/
https://www.ncbi.nlm.nih.gov/pubmed/28748012
http://dx.doi.org/10.11604/pamj.2017.27.10.8177
work_keys_str_mv AT rchachimeryem associationsyndromedewilliamsetinsuffisancesurrenalienne
AT larwanoumaazoumahamane associationsyndromedewilliamsetinsuffisancesurrenalienne
AT elouahabihanan associationsyndromedewilliamsetinsuffisancesurrenalienne
AT ajdifarida associationsyndromedewilliamsetinsuffisancesurrenalienne

Ejemplares similares