Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six short-rib (polydactyly) syndromes. The disease has a wide spectrum of manifestations, ranging from a latent to a mild or lethal condition. We describe the prenatal sonographic diagnosis of Jeune syndrome at 14 weeks of gestation in a fetus at risk for this condition, and the development of the syndrome throughout the pregnancy.

Asphyxiating thoracic dysplasia, Early pregnancy, Fetus, Jeune syndrome, Prenatal diagnosis, Ultrasound,
Ultrasound in Obstetrics and Gynecology
Department of Clinical Genetics

den Hollander, N.S, Robben, S.G.F, Hoogeboom, A.J.M, Niermeijer, M.F, & Wladimiroff, J.W. (2001). Early prenatal sonographic diagnosis and follow-up of Jeune syndrome. Ultrasound in Obstetrics and Gynecology, 18(4), 378–383. doi:10.1046/j.0960-7692.2001.00530.x