Article not rated

Vol. 23 - Num. 89

Clinical Reviews

Suffocating thoracic dysplasia

Claudia García Barrionuevoa, Pedro Luis Márquez Miraa, Borja Croche Santanderb, Román Jesús López Díazc

aMIR-Pediatría. Hospital Juan Ramón Jiménez. Huelva. España.
bServicio de Pediatría. Hospital Juan Ramón Jiménez. Huelva. España.
cPediatra. CS San Juan del Puerto. Huelva. España.

Correspondence: C García. E-mail: claudiagarciabarrionuevo@gmail.com

Reference of this article: García Barrionuevo C, Márquez Mira PL, Croche Santander B, López Díaz RJ. Suffocating thoracic dysplasia. Rev Pediatr Aten Primaria. 2021;23:91-4.

Published in Internet: 29-03-2021 - Visits: 707

Abstract

Jeune syndrome or suffocating thoracic dysplasia is a genetic disease with autosomal recessive inheritance, characterized by presenting a quirky phenotype. The diagnosis is clinical-radiological. Mutations in genes IFT80, DYNC2H1, WDR19, IFT140 and TTC21B that encode intraflagellar transport proteins responsible for the disease have been described.

Keywords

Congenital malformation Jeune syndrome

 

Comments

This article has no comments yet.