Early prenatal sonographic diagnosis and follow-up of Jeune syndrome

Citation
Ns. Den Hollander et al., Early prenatal sonographic diagnosis and follow-up of Jeune syndrome, ULTRASOUN O, 18(4), 2001, pp. 378-383
Citations number
15
Categorie Soggetti
Reproductive Medicine
Journal title
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
ISSN journal
09607692 → ACNP
Volume
18
Issue
4
Year of publication
2001
Pages
378 - 383
Database
ISI
SICI code
0960-7692(200110)18:4<378:EPSDAF>2.0.ZU;2-8
Abstract
Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six short-rib (polydactyly) syndro mes. The disease has a wide spectrum of manifestations, ranging from a late nt to a mild or lethal condition. We describe the prenatal sonographic diag nosis of Jeune syndrome at 14 weeks of gestation in a fetus at risk for thi s condition, and the development of the syndrome throughout the pregnancy.