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

Tamara N. Kimball,Pamela Rivero-Garcia, Bernardo Perez Gonzalez,Alfredo Adolfo Reza-Albarran

CLINICAL CASE REPORTS（2023）

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Abstract
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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Key words
diastrophic dysplasia,esophageal stenosis,skeletal dysplasia
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