Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2009 Apr;1(1):58-60.
doi: 10.4021/jocmr2009.04.1234. Epub 2009 Apr 24.

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

Young Sammy Choi  1 , David Scott Sachar
Affiliations
Case Reports

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

Young Sammy Choi et al. J Clin Med Res. 2009 Apr.

Abstract

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.

PubMed Disclaimer

References

    1. Angelman H. "Puppet children". A report of three cases. Dev Med Child Neurol. 1965;7:681–688.
    1. Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S. Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet. 1987;28(4):829–838. - PubMed
    1. Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE. et al. Angelman syndrome: consensus for diagnostic criteria.Angelman Syndrome Foundation. Am J Med Genet. 1995;56(2):237–238. - PubMed
    1. Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE. et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006;140(5):413–418. - PubMed
    1. Schatzki R, Gary JE. Dysphagia due to a diaphragm-like localized narrowing in the lower esophagus (lower esophageal ring) Am J Roentgenol Radium Ther Nucl Med. 1953;70(6):911–922. - PubMed

Publication types

LinkOut - more resources