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

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 d...

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Detalles Bibliográficos
Autores principales: Kimball, Tamara N., Rivero‐García, Pamela, Pérez González, Bernardo, Reza‐Albarrán, Alfredo Adolfo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593974/
https://www.ncbi.nlm.nih.gov/pubmed/37881199
http://dx.doi.org/10.1002/ccr3.8028
Descripción
Sumario: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.

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