Early prenatal sonographic diagnosis and follow-up of Jeune syndrome.
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.
den Hollander
N S
NS
Department of Obstetrics and Gynaecology, Academic Hospital Dijkzigt-Rotterdam, The Netherlands. denhollander@lumc.nl
Robben
S G
SG
Hoogeboom
A J
AJ
Niermeijer
M F
MF
Wladimiroff
J W
JW
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