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

Tamara N Kimball; Pamela Rivero-García; Bernardo Pérez González; Alfredo Adolfo Reza-Albarrán

doi:10.1002/ccr3.8028

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

Clin Case Rep. 2023 Oct 23;11(10):e8028. doi: 10.1002/ccr3.8028. eCollection 2023 Oct.

Authors

Tamara N Kimball¹, Pamela Rivero-García¹, Bernardo Pérez González², Alfredo Adolfo Reza-Albarrán^{1

3}

Affiliations

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

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.

Keywords: SLC26A2; diastrophic dysplasia; esophageal stenosis; skeletal dysplasia.

Publication types

Case Reports