Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients

Angelman Syndrome is a neurodevelopmental condition with a characteristic phenotype that includes epilepsy and lack of communication. We describe its first reported association with Schatzki's ring that presented as a life-long history of intermittent retching. Because of associated cognitive d...

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Detalles Bibliográficos
Autores principales: Choi, Young Sammy, Sachar, David Scott
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3318873/
https://www.ncbi.nlm.nih.gov/pubmed/22505969
http://dx.doi.org/10.4021/jocmr2009.04.1234
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author Choi, Young Sammy
Sachar, David Scott
author_facet Choi, Young Sammy
Sachar, David Scott
author_sort Choi, Young Sammy
collection PubMed
description Angelman Syndrome is a neurodevelopmental condition with a characteristic phenotype that includes epilepsy and lack of communication. We describe its first reported association with Schatzki's ring that presented as a life-long history of intermittent retching. Because of associated cognitive dysfunction, careful diagnostic consideration is required to detect this underlying condition. KEYWORDS: Schatzki's ring; Angelman Syndrome; Esophageal "B" ring; Barium esophagogram; Neurodevelopmental delay; Retching
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spelling pubmed-33188732012-04-13 Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients Choi, Young Sammy Sachar, David Scott J Clin Med Res Case Report Angelman Syndrome is a neurodevelopmental condition with a characteristic phenotype that includes epilepsy and lack of communication. We describe its first reported association with Schatzki's ring that presented as a life-long history of intermittent retching. Because of associated cognitive dysfunction, careful diagnostic consideration is required to detect this underlying condition. KEYWORDS: Schatzki's ring; Angelman Syndrome; Esophageal "B" ring; Barium esophagogram; Neurodevelopmental delay; Retching Elmer Press 2009-04 2009-04-24 /pmc/articles/PMC3318873/ /pubmed/22505969 http://dx.doi.org/10.4021/jocmr2009.04.1234 Text en Copyright 2009, Choi et al. http://creativecommons.org/licenses/by/2.0/ 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
Choi, Young Sammy
Sachar, David Scott
Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients
title Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients
title_full Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients
title_fullStr Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients
title_full_unstemmed Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients
title_short Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients
title_sort schatzki's ring in angelman syndrome: a diagnostic dilemma in neurodevelopmentally disabled patients
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3318873/
https://www.ncbi.nlm.nih.gov/pubmed/22505969
http://dx.doi.org/10.4021/jocmr2009.04.1234
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