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: 7894
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
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