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Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.

Authors :
Kimball, Tamara N.
Rivero‐García, Pamela
Pérez González, Bernardo
Reza‐Albarrán, Alfredo Adolfo
Source :
Clinical Case Reports; Oct2023, Vol. 11 Issue 10, p1-6, 6p
Publication Year :
2023

Abstract

Key Clinical Message: Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the SLC26A2 gene. We report the case of a 49‐year‐old female with DTD and esophageal stenosis. This broadens the phenotypic spectrum in adult patients with DTD and raises awareness of extra‐skeletal manifestations that could develop in later stages of life. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20500904
Volume :
11
Issue :
10
Database :
Complementary Index
Journal :
Clinical Case Reports
Publication Type :
Academic Journal
Accession number :
173182208
Full Text :
https://doi.org/10.1002/ccr3.8028