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

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 manife...

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Bibliographic Details
Published inClinical case reports Vol. 11; no. 10
Main Authors Kimball, Tamara N., Rivero‐García, Pamela, Pérez González, Bernardo, Reza‐Albarrán, Alfredo Adolfo
Format Journal Article
LanguageEnglish
Published Bognor Regis John Wiley & Sons, Inc 01.10.2023
John Wiley and Sons Inc
Wiley
Subjects
Cartilage
Case Report
Case reports
diastrophic dysplasia
esophageal stenosis
Esophagus
Fingers & toes
Genetics and Genomics
Genotype & phenotype
Hearing loss
Morphology
Mutation
Patients
skeletal dysplasia
SLC26A2
X-rays
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Summary: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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.8028