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

Published in: Clinical case reports (2023)

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.

Keyphrases

case report
copy number
intellectual disability
genome wide
gene expression
autism spectrum disorder