Ultrasound diagnosis of recurring Jeune's syndrome: a case report.
作者信息
Kontomanolis E N, Markopoulou E, Pinidis P, Georgiadis A, Kokkoris S, Limperis V
机构信息
Department of Obstetrics & Gynecology, Democritus, University, Alexandroupolis, Greece.
出版信息
Clin Exp Obstet Gynecol. 2013;40(1):162-4.
PMID:23724536
Abstract
Jeune's Syndrome or asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive skeletal dysplasia syndrome characterized by a small and narrow chest, short extremities, and often polydactyly associated with multiple organ manifestations. The severity of complications ranges from mild to lethal. This is a report of two cases of ATD diagnosed in successive pregnancies of a nonconsanguineous couple. The contribution of sonography in prenatal diagnosis of the syndrome is highlighted.
摘要
相似文献
1
Ultrasound diagnosis of recurring Jeune's syndrome: a case report.
Clin Exp Obstet Gynecol. 2013;40(1):162-4.
2
3
Prenatal sonographic diagnosis of ellis-van creveld syndrome.
J Clin Ultrasound. 2000 Jan;28(1):38-41. doi: 10.1002/(sici)1097-0096(200001)28:1<38::aid-jcu6>3.0.co;2-z.
4
[Jeune's thoracic dystrophy and its relationship with the Ellis-van Creveld syndrome. Clinico-radiological study of a case].
Minerva Pediatr. 1974 Mar 17;26(9):464-9.
5
First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound.
Ultrasound Obstet Gynecol. 2001 Jan;17(1):86-8. doi: 10.1046/j.1469-0705.2001.00255.x.
6
Nephronophthisis associated with Ellis-van Creveld syndrome.
Pediatr Nephrol. 1998 Jan;12(1):20-2. doi: 10.1007/s004670050395.
7
Prenatal ultrasound and MRI Diagnosis of Jeune syndrome type I (asphyxiating thoracic dystrophy) with histology and post-mortem three-dimensional CT confirmation.
Fetal Pediatr Pathol. 2013 Apr;32(2):123-32. doi: 10.3109/15513815.2012.681427. Epub 2012 May 17.
8
Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium.
Pediatr Radiol. 1997 Dec;27(12):942-4. doi: 10.1007/s002470050277.
9
Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification.
Pediatr Radiol. 2001 Apr;31(4):289-93. doi: 10.1007/s002470000421.
10
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
Eur J Hum Genet. 2000 Aug;8(8):645-8. doi: 10.1038/sj.ejhg.5200507.
Zotero 插件