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

1 例墨西哥成年患者食管狭窄伴食管发育不良 ： 病例报告。

• 发表时间: 2023 Oct
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.8028
• PMID: 37881199
• 文章类型: Case Reports
• 作者列表: Kimball TN,Rivero-García P,Pérez González B,Reza-Albarrán AA

关键词: SLC26A2; diastrophic dysplasia; esophageal stenosis; skeletal dysplasia

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.

摘要

萎缩性发育不良（DTD）是由SLC26A2基因中的双等位基因致病变体引起的。我们报告了一名49岁女性患有DTD和食管狭窄的病例。这拓宽了患有DTD的成年患者的表型谱，并提高了对可能在生命后期发展的骨骼外表现的认识。