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先天性多发性关节挛缩症的产前评估。文献综述。

Prenatal assessment of arthrogryposis. A review of the literature.

作者信息

Dimitraki Marina, Tsikouras Panagiotis, Bouchlariotou Sofia, Dafopoulos Alexandros, Konstantou Euaggelia, Liberis Vasileios

机构信息

Department of Obstetrics and Gynecology, Democritus University of Thrace, University Hospital of Alexandroupolis, Alexandroupolis, Greece.

出版信息

J Matern Fetal Neonatal Med. 2011 Jan;24(1):32-6. doi: 10.3109/14767058.2010.482615. Epub 2010 Jun 23.

DOI:10.3109/14767058.2010.482615
PMID:20569162
Abstract

Arthrogryposis Multiplex Congenital (AMC) is a group of muscular, neurologic and connective tissue disorders, characterized by multiple severe joint contractures and decreased mobility. The incidence of this condition is 1/3000 births while the etiology is variable. Prenatal assessment of arthrogryposis has focused primarily on diminished fetal movement and the presence of joint contractures or skeletal deformities. These findings may not become evident until after 16-18 weeks' gestational age, subsequently, early prenatal diagnosis is difficult. Nowadays, modern ultrasound techniques and special sonographic markers help the clinicians with the prenatal detection of arthrogryposis in every gestational trimester.

摘要

先天性多发性关节挛缩症(AMC)是一组肌肉、神经和结缔组织疾病,其特征为多个严重关节挛缩和活动度降低。这种疾病的发病率为1/3000活产儿,病因多样。先天性多发性关节挛缩症的产前评估主要集中在胎动减少以及关节挛缩或骨骼畸形的存在。这些表现可能直到孕16 - 18周后才会明显,因此,早期产前诊断较为困难。如今,现代超声技术和特殊超声标志物有助于临床医生在每个孕期对先天性多发性关节挛缩症进行产前检测。

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Prenatal assessment of arthrogryposis. A review of the literature.先天性多发性关节挛缩症的产前评估。文献综述。
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Multiple congenital contractures (congenital multiple arthrogryposis).多发性先天性挛缩(先天性多发性关节挛缩症)。
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Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology.先天性多发性关节挛缩症的产前诊断,伴有颈项透明层增厚,但无任何潜在的胎儿神经源性或肌源性病变。
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引用本文的文献

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Prenatal Diagnosis and Prognostic Factors in Fetuses With Arthrogryposis Multiplex Congenita-A Systematic Review.先天性多发性关节挛缩症胎儿的产前诊断及预后因素——一项系统综述
J Clin Ultrasound. 2025 Jun;53(5):1131-1139. doi: 10.1002/jcu.23983. Epub 2025 Mar 28.
2
Successful pregnancy in a woman with arthrogryposis multiplex congenita.患有先天性多发性关节挛缩症的女性成功怀孕。
BMJ Case Rep. 2013 Dec 5;2013:bcr2013201621. doi: 10.1136/bcr-2013-201621.