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
dx.doi.org/10.1046/j.0960-7692.2001.00530.x, hdl.handle.net/1765/65812
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