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先天性多发性关节挛缩症的产前超声表现

[Prenatal ultrasound aspects of arthrogryposis multiplex congenita].

作者信息

Chelli Dalenda, Dimassi Kaouther, Bouaziz Mouna, Masmoudi Aida, Ben Jemaa Nadia, Zouaoui Béchir, Sfar Ezzeddine, Chelli Héla, Channoufi Mohamed Badis, Gaigi Soumaya

机构信息

Service A, Centre de Maternité et de Néonatalogie, Tunis.

出版信息

Tunis Med. 2008 Apr;86(4):328-34.

Abstract

AIM

To analyze the contribution of prenatal ultrasound in the diagnosis of arthrogryposis multiplex congenital according to its type and antenatal expression.

METHODS

Retrospective study led between January 1993 and November 2007. We studied the cases of arthrogryposis suspected or diagnosed by antenatal ultrasound while analyzing the circumstances of discovery, the profile of the pregnant women and the abnormal scan findings.

RESULTS

16 observations have been collected. We recovered one multiple pterigium syndrome and five observations of severe fetal akinesia sequences diagnosed in the second trimester. The arthrogryposis was part of different syndromes in other cases. Four distal arthrogryposis had been diagnosed in the second trimester. All cases suspected during the third trimester were associated to an anomaly of the amniotic fluid, mainly to a polyhydramnios. The abnormal scan findings were less specific to this term.

CONCLUSION

Arthrogryposis multiplex congenital is rare. It has several morphological aspects. Some ultrasound aspects are specific in the first and second trimesters. The diagnosis is more difficult at the third trimester.

摘要

目的

根据先天性多发性关节挛缩症的类型及产前表现,分析产前超声在其诊断中的作用。

方法

对1993年1月至2007年11月期间进行的回顾性研究。我们研究了产前超声怀疑或诊断为先天性多发性关节挛缩症的病例,同时分析了发现情况、孕妇情况及超声检查异常结果。

结果

共收集到16例观察病例。我们发现1例多翼状胬肉综合征,以及5例在孕中期诊断为严重胎儿运动减少序列征的病例。在其他病例中,先天性多发性关节挛缩症是不同综合征的一部分。4例远端关节挛缩症在孕中期被诊断。所有在孕晚期怀疑的病例均与羊水异常有关,主要是羊水过多。在这个孕周,超声检查异常结果的特异性较低。

结论

先天性多发性关节挛缩症较为罕见。它有多种形态学表现。一些超声表现在孕早期和孕中期具有特异性。在孕晚期诊断较为困难。

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