Angelman Syndrome: A Case Report

Objective Angelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pedia...

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Autores principales: Ashrafzadeh, Farah, Sadrnabavi, Arianeh, Akhondian, Javad, Beiraghi Toosi, Mehran, Mohammadi, Mohammadhassan, Hassanpour, Kazem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4885160/
https://www.ncbi.nlm.nih.gov/pubmed/27247589
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author Ashrafzadeh, Farah
Sadrnabavi, Arianeh
Akhondian, Javad
Beiraghi Toosi, Mehran
Mohammadi, Mohammadhassan
Hassanpour, Kazem
author_facet Ashrafzadeh, Farah
Sadrnabavi, Arianeh
Akhondian, Javad
Beiraghi Toosi, Mehran
Mohammadi, Mohammadhassan
Hassanpour, Kazem
author_sort Ashrafzadeh, Farah
collection PubMed
description Objective Angelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pediatrics Neurologic Clinic Mashhad, Iran for speech delay. He had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism. Metabolic screening tests and brain MRI were normal. Genetic analysis was pathognomonic for AS.
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spelling pubmed-48851602016-06-01 Angelman Syndrome: A Case Report Ashrafzadeh, Farah Sadrnabavi, Arianeh Akhondian, Javad Beiraghi Toosi, Mehran Mohammadi, Mohammadhassan Hassanpour, Kazem Iran J Child Neurol Case Report Objective Angelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pediatrics Neurologic Clinic Mashhad, Iran for speech delay. He had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism. Metabolic screening tests and brain MRI were normal. Genetic analysis was pathognomonic for AS. Shahid Beheshti University of Medical Sciences 2016 /pmc/articles/PMC4885160/ /pubmed/27247589 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ashrafzadeh, Farah
Sadrnabavi, Arianeh
Akhondian, Javad
Beiraghi Toosi, Mehran
Mohammadi, Mohammadhassan
Hassanpour, Kazem
Angelman Syndrome: A Case Report
title Angelman Syndrome: A Case Report
title_full Angelman Syndrome: A Case Report
title_fullStr Angelman Syndrome: A Case Report
title_full_unstemmed Angelman Syndrome: A Case Report
title_short Angelman Syndrome: A Case Report
title_sort angelman syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4885160/
https://www.ncbi.nlm.nih.gov/pubmed/27247589
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AT beiraghitoosimehran angelmansyndromeacasereport
AT mohammadimohammadhassan angelmansyndromeacasereport
AT hassanpourkazem angelmansyndromeacasereport

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