title: Early prenatal sonographic diagnosis and follow-up of Jeune syndrome.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynaecology, Academic Hospital Dijkzigt-Rotterdam, The Netherlands. denhollander@lumc.nl
authors.forename: N S
authors.initials: NS
authors.lastname: den Hollander
authors.forename: S G
authors.initials: SG
authors.lastname: Robben
authors.forename: A J
authors.initials: AJ
authors.lastname: Hoogeboom
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: J W
authors.initials: JW
authors.lastname: Wladimiroff
mesh_terms: D000886:Anthropometry; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*; D014463:Ultrasonography