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三维超声在诊断海豹肢畸形中的应用

Three-dimensional ultrasound in diagnosing phocomelia.

作者信息

Lee A, Kratochwil A, Deutinger J, Bernaschek G

机构信息

Department of Prenatal Diagnosis and Therapy, University of Vienna, Austria.

出版信息

Ultrasound Obstet Gynecol. 1995 Apr;5(4):238-40. doi: 10.1046/j.1469-0705.1995.05040238.x.

DOI:10.1046/j.1469-0705.1995.05040238.x
PMID:7600204
Abstract

Deformations of the extremities with limb reduction are rare congenital defects which affect one in 1692 live babies. Three-dimensional ultrasound can be of value in the prenatal diagnosis of such deformities. We present a case of upper phocomelia and congenital thrombocytopenia (TAR syndrome). Visualization of the upper extremities was achieved by three-dimensional ultrasound after surface and volume rendering. This new technique allows imaging not only of surfaces like the fetal skin, but also of internal structures like the fetal skeleton.

摘要

肢体短小所致的肢体畸形是一种罕见的先天性缺陷,每1692例活产婴儿中就有1例受其影响。三维超声在这类畸形的产前诊断中具有重要价值。我们报告一例上肢海豹肢畸形并先天性血小板减少症(TAR综合征)的病例。通过表面和容积再现技术,利用三维超声实现了上肢的可视化。这项新技术不仅能够对胎儿皮肤等表面进行成像,还能对胎儿骨骼等内部结构进行成像。

相似文献

1
Three-dimensional ultrasound in diagnosing phocomelia.三维超声在诊断海豹肢畸形中的应用
Ultrasound Obstet Gynecol. 1995 Apr;5(4):238-40. doi: 10.1046/j.1469-0705.1995.05040238.x.
2
Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.上肢海豹肢畸形:一例产前伴桡骨缺如/血小板减少症(TAR)综合征的病例,阐明了染色体微阵列在肢体减少缺陷中的重要性。
Taiwan J Obstet Gynecol. 2020 Mar;59(2):318-322. doi: 10.1016/j.tjog.2020.01.024.
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[Prenatal ultrasonographic diagnosis of congenital isolated developmental defects of fetal extremities].[胎儿肢体先天性孤立性发育缺陷的产前超声诊断]
Akush Ginekol (Mosk). 1991 May(5):22-7.
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A case of severe dysmelia of all extremities.一例四肢严重发育障碍病例。
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[Newborn with phocomelia and thrombocytopenia. Case report].
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Limb deformities and three-dimensional ultrasound.肢体畸形与三维超声
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引用本文的文献

1
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.1q21.1微缺失和RBM8A低表达等位基因复合杂合导致的血小板减少-桡骨缺失(TAR)综合征胎儿的产前诊断和尸检:病例报告
BMC Res Notes. 2013 Sep 22;6:376. doi: 10.1186/1756-0500-6-376.
2
Early diagnosis of conjoined twins using two-dimensional color Doppler and three-dimensional ultrasound.使用二维彩色多普勒和三维超声对联体双胎进行早期诊断。
J Natl Med Assoc. 1998 Sep;90(9):552-6.