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

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 d...

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Autores principales: Kimball, Tamara N., Rivero‐García, Pamela, Pérez González, Bernardo, Reza‐Albarrán, Alfredo Adolfo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593974/
https://www.ncbi.nlm.nih.gov/pubmed/37881199
http://dx.doi.org/10.1002/ccr3.8028
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author Kimball, Tamara N.
Rivero‐García, Pamela
Pérez González, Bernardo
Reza‐Albarrán, Alfredo Adolfo
author_facet Kimball, Tamara N.
Rivero‐García, Pamela
Pérez González, Bernardo
Reza‐Albarrán, Alfredo Adolfo
author_sort Kimball, Tamara N.
collection PubMed
description 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.
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spelling pubmed-105939742023-10-25 Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report Kimball, Tamara N. Rivero‐García, Pamela Pérez González, Bernardo Reza‐Albarrán, Alfredo Adolfo Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2023-10-23 /pmc/articles/PMC10593974/ /pubmed/37881199 http://dx.doi.org/10.1002/ccr3.8028 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Kimball, Tamara N.
Rivero‐García, Pamela
Pérez González, Bernardo
Reza‐Albarrán, Alfredo Adolfo
Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report
title Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report
title_full Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report
title_fullStr Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report
title_full_unstemmed Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report
title_short Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report
title_sort esophageal stenosis in an adult mexican patient with diastrophic dysplasia: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593974/
https://www.ncbi.nlm.nih.gov/pubmed/37881199
http://dx.doi.org/10.1002/ccr3.8028
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AT riverogarciapamela esophagealstenosisinanadultmexicanpatientwithdiastrophicdysplasiacasereport
AT perezgonzalezbernardo esophagealstenosisinanadultmexicanpatientwithdiastrophicdysplasiacasereport
AT rezaalbarranalfredoadolfo esophagealstenosisinanadultmexicanpatientwithdiastrophicdysplasiacasereport

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