%0 Case Reports
%T Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.
%A Kimball TN
%A Rivero-García P
%A Pérez González B
%A Reza-Albarrán AA
%J Clin Case Rep
%V 11
%N 10
%D 2023 Oct
%M 37881199
暂无%R 10.1002/ccr3.8028
%X 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.