Early prenatal sonographic diagnosis and follow‐up of Jeune syndrome

• Published in: Ultrasound in obstetrics & gynecology Vol. 18; no. 4; pp. 378 - 383
• Main Authors: Den Hollander, N. S., Robben, S. G. F., Hoogeboom, A. J. M., Niermeijer, M. F., Wladimiroff, J. W.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.10.2001; Wiley
• Subjects: Anthropometry; Asphyxiating thoracic dysplasia; Biological and medical sciences; Early pregnancy; Fatal Outcome; Female; Fetus; Humans; Investigative techniques, diagnostic techniques (general aspects); Jeune syndrome; Medical sciences; Miscellaneous. Technology; Osteochondrodysplasias - diagnostic imaging; Pregnancy; Pregnancy Trimester, First; Prenatal diagnosis; Syndrome; Thorax - abnormalities; Ultrasonic investigative techniques; Ultrasonography; Ultrasound; Sonography; Human; Congenital; Asphyxiating thoracic dysplasia; Diseases of the osteoarticular system; Early stage; Genetic disease; Case study; Surveillance; Malformation; Echography; Fetus; Diagnosis; Chest wall; Osteochondrodysplasia
• ISSN: 0960-7692; 1469-0705
• DOI: 10.1046/j.0960-7692.2001.00530.x

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. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology