par Harou, KARAM ;L'Hermite, Marc
Référence Journal de gynécologie obstétrique et biologie de la reproduction, 39, 2, page (163-167)
Publication Publié, 2010-04
Article révisé par les pairs
Résumé : Asphyxiating thoracic dysplasia (Jeune syndrome) is an osteochondrodysplasia with autosomal recessive inheritance, characterised by a nanism with rhizomelic predominance, associated with a narrow thorax. It induces an alteration of the respiratory function that conditions the prognosis, which is worsened in case of associated visceral lesions (probably related to mutations of genes implicated in ciliary development, as recently described). We report the observation of two severe cases of Jeune syndrome to emphasize the advancement of imaging, especially echography, and molecular biology in establishing prenatal diagnosis as well as prognosis of this syndrome. © 2009 Elsevier Masson SAS. All rights reserved.