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A case report of interventricular hemorrhage in William-Beuren syndrome

BACKGROUND: Williams syndrome (WS) (also as known Williams-Beuren Syndrome) is a neurodevelopmental disorder caused by deletion of chromosomes 7q11.23. WS phenotype is very variable but usually it is associated with a distinctive pattern of cognitive abilities. CASE PRESENTATION: 9-year-old female p...

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Autores principales: Alghobaishi, Abdullah, Mousa, Ahmed Hafez, Almonaye, Haleema Sami, Maghrebi, Tasneem Khalid, Amin, Abeer, Al Sharif, Fawziah Alzaid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422350/
https://www.ncbi.nlm.nih.gov/pubmed/36045762
http://dx.doi.org/10.1016/j.amsu.2022.104305
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author Alghobaishi, Abdullah
Mousa, Ahmed Hafez
Almonaye, Haleema Sami
Maghrebi, Tasneem Khalid
Amin, Abeer
Al Sharif, Fawziah Alzaid
author_facet Alghobaishi, Abdullah
Mousa, Ahmed Hafez
Almonaye, Haleema Sami
Maghrebi, Tasneem Khalid
Amin, Abeer
Al Sharif, Fawziah Alzaid
author_sort Alghobaishi, Abdullah
collection PubMed
description BACKGROUND: Williams syndrome (WS) (also as known Williams-Beuren Syndrome) is a neurodevelopmental disorder caused by deletion of chromosomes 7q11.23. WS phenotype is very variable but usually it is associated with a distinctive pattern of cognitive abilities. CASE PRESENTATION: 9-year-old female patient known case of developmental delay and precocious puberty presented to the emergency department with altered level of consciousness, elevated blood pressure of 230/160 with a provisional diagnosis of hypertensive encephalopathy. CONCLUSIONS: In our patient, the strongest indications for establishing the diagnosis included the classic elfin face and multisystemic involvement. Later on genetic analysis confirmed our diagnosis.
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spelling pubmed-94223502022-08-30 A case report of interventricular hemorrhage in William-Beuren syndrome Alghobaishi, Abdullah Mousa, Ahmed Hafez Almonaye, Haleema Sami Maghrebi, Tasneem Khalid Amin, Abeer Al Sharif, Fawziah Alzaid Ann Med Surg (Lond) Case Report BACKGROUND: Williams syndrome (WS) (also as known Williams-Beuren Syndrome) is a neurodevelopmental disorder caused by deletion of chromosomes 7q11.23. WS phenotype is very variable but usually it is associated with a distinctive pattern of cognitive abilities. CASE PRESENTATION: 9-year-old female patient known case of developmental delay and precocious puberty presented to the emergency department with altered level of consciousness, elevated blood pressure of 230/160 with a provisional diagnosis of hypertensive encephalopathy. CONCLUSIONS: In our patient, the strongest indications for establishing the diagnosis included the classic elfin face and multisystemic involvement. Later on genetic analysis confirmed our diagnosis. Elsevier 2022-08-05 /pmc/articles/PMC9422350/ /pubmed/36045762 http://dx.doi.org/10.1016/j.amsu.2022.104305 Text en © 2022 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Alghobaishi, Abdullah
Mousa, Ahmed Hafez
Almonaye, Haleema Sami
Maghrebi, Tasneem Khalid
Amin, Abeer
Al Sharif, Fawziah Alzaid
A case report of interventricular hemorrhage in William-Beuren syndrome
title A case report of interventricular hemorrhage in William-Beuren syndrome
title_full A case report of interventricular hemorrhage in William-Beuren syndrome
title_fullStr A case report of interventricular hemorrhage in William-Beuren syndrome
title_full_unstemmed A case report of interventricular hemorrhage in William-Beuren syndrome
title_short A case report of interventricular hemorrhage in William-Beuren syndrome
title_sort case report of interventricular hemorrhage in william-beuren syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422350/
https://www.ncbi.nlm.nih.gov/pubmed/36045762
http://dx.doi.org/10.1016/j.amsu.2022.104305
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