Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report-Reference-Cited by-同舟云学术

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

Published:2023-10 Issue:10 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Kimball Tamara N.¹^ORCID,Rivero‐García Pamela¹^ORCID,Pérez González Bernardo²^ORCID,Reza‐Albarrán Alfredo Adolfo¹³^ORCID

Affiliation:

1. División de Estudios de Posgrado de la Facultad de Medicina, Universidad Nacional Autónoma de México/Departamento de Genética Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico

2. División de Estudios de Posgrado de la Facultad de Medicina, Universidad Nacional Autónoma de México/Departamento de Endoscopia Gastrointestinal Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico

3. Departamento de Endocrinología Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico

Abstract

Key Clinical MessageDiastrophic 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.

Funder

Universidad Nacional Autónoma de México

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.8028

Reference18 articles.

1. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

2. Le nanisme thanatophore [Thanatophoric dwarfism];Maroteaux P;Presse med (1893),1967

3. Total knee arthroplasty in a patient with diastrophic dwarfism;Crowley RL;AANA J,2010

4. SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

5. Prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy: Two- and threedimensional ultrasonographic findings