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

Abstract

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.

Keywords

• diastrophic dysplasia
• esophageal stenosis
• skeletal dysplasia
• SLC26A2