产前超声诊断胎儿先天性多发性关节挛缩症1例

2019-07-27 李诗慧 解丽梅 中国临床医学影像杂志

病例女,35岁,孕23+5周,长期服中药。行中孕期产前超筛查。超声所见:双顶径6.5 cm,头围21.5 cm,腹围19.4 cm,股骨长度4.1 cm,胎头轮廓完整,双侧顶骨向外突出。下颌后缩,下面部角约26°。

病例女,35岁,孕23+5周,长期服中药。行中孕期产前超筛查。超声所见:双顶径6.5 cm,头围21.5 cm,腹围19.4 cm,股骨长度4.1 cm,胎头轮廓完整,双侧顶骨向外突出。下颌后缩,下面部角约26°。
 
扫查过程中左侧膝关节未见明显活动,右侧膝关节仅可见小幅屈曲,双足呈摇椅样,踝关节未见伸展动作(图1a~1c)。单脐动脉,脐带囊肿,大小约1.8 cm×1.9 cm。超声提示:胎儿小下颌;双足呈摇椅样改变(考虑垂直距骨可能性大),左侧膝关节僵直,右侧膝关节、双侧踝关节活动受限;单脐动脉。患者选择终止妊娠,引产单胎女婴。



图1a下颌后缩,下面部角约26°。图1b右足呈摇椅样。图1c左足呈摇椅样。
 
引产后基本同超声所见:胎儿小下颌畸形;胎儿皮肤紧绷,在关节处缺少皮肤褶皱;双侧膝关节、双侧踝关节僵硬,双足呈摇椅样改变;脐带囊肿。引产后临床证实胎儿为先天性多发性关节挛缩(Arthrogryposis multiplex congenita,AMC)。
 
讨论
 
AMC是一组异质性疾病,通常累及四肢近端关节,也可能涉及下颌或颈椎。AMC总体发病率为1:3000~5000,临床分型大体分为3类:①单纯的末梢挛缩(仅累及末梢肢体关节);②多发性关节挛缩伴内脏及头面部畸形;③多发性关节挛缩伴神经系统异常。研究表明,患有小头畸形和AMC的孩子多数是由于母亲在早孕时感染了ZIKV病毒,或存在肌肉的常染色体隐性遗传。
 
又有学者研究表明,NEB基因突变和MYBPC1基因表型的纯合突变可造成胎儿AMC。AMC的典型超声表现:①关节僵直,呈挛缩状或过伸状,肌张力增高,肢体活动减少;②常见膝、踝关节受累,可合并皮下组织变薄;③常伴发中枢神经系统异常。约半数胎儿可合并脐带囊肿和羊水过多。
 
本病的产前诊断较困难,需要超声医师有一定的经验和耐心。当超声提示上述主要的特殊体征及伴发症时,应提高警惕,并重视胎儿的姿势与肢体活动度,一次扫查显示不满意时可嘱孕妇适当活动后再次扫查。AMC患者由于软组织挛缩、肌肉变形萎缩,导致矫正十分困难。即使有些患儿经过手术切开纠正,也只能轻微改善外观,而不能完全恢复正常的关节位置与功能。故产前一经诊断,孕妇及家属多考虑引产,因此,AMC的产前诊断尤为重要。
 
原始出处:

李诗慧,解丽梅.产前超声诊断胎儿先天性多发性关节挛缩症1例[J].中国临床医学影像杂志,2018(04):304.

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    2019-11-03 jml2009
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    2019-07-29 huirong
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    2019-07-29 qilu_qi
  5. [GetPortalCommentsPageByObjectIdResponse(id=1973172, encodeId=781b19e31726d, content=<a href='/topic/show?id=550a2443846' target=_blank style='color:#2F92EE;'>#产前超声#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24438, encryptionId=550a2443846, topicName=产前超声)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=232a2500033, createdName=1249859em38(暂无昵称), createdTime=Tue Mar 31 11:03:00 CST 2020, time=2020-03-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1890045, encodeId=fdcd189004548, content=<a href='/topic/show?id=760c430895a' target=_blank style='color:#2F92EE;'>#多发性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=43089, encryptionId=760c430895a, topicName=多发性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=04d6114, createdName=jml2009, createdTime=Sun Nov 03 16:03:00 CST 2019, time=2019-11-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1369462, encodeId=5a5b13694629a, content=<a href='/topic/show?id=bc9f28589d0' target=_blank style='color:#2F92EE;'>#先天性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=28589, encryptionId=bc9f28589d0, topicName=先天性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a435298, createdName=huirong, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1502563, encodeId=da73150256354, content=<a href='/topic/show?id=ef4b2441971' target=_blank style='color:#2F92EE;'>#产前#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24419, encryptionId=ef4b2441971, topicName=产前)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b49a9545081, createdName=qilu_qi, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1559995, encodeId=e18315599951e, content=<a href='/topic/show?id=c1eb9282699' target=_blank style='color:#2F92EE;'>#超声诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=92826, encryptionId=c1eb9282699, topicName=超声诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6ebf15056071, createdName=tcm104hq, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1566004, encodeId=3a9d156600489, content=<a href='/topic/show?id=c1eb9282699' target=_blank style='color:#2F92EE;'>#超声诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=92826, encryptionId=c1eb9282699, topicName=超声诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6ebf15056071, createdName=tcm104hq, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=370366, encodeId=18c03e036611, content=好, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0aa31415219, createdName=orangesking, createdTime=Sat Jul 27 20:12:27 CST 2019, time=2019-07-27, status=1, ipAttribution=)]
  6. [GetPortalCommentsPageByObjectIdResponse(id=1973172, encodeId=781b19e31726d, content=<a href='/topic/show?id=550a2443846' target=_blank style='color:#2F92EE;'>#产前超声#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24438, encryptionId=550a2443846, topicName=产前超声)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=232a2500033, createdName=1249859em38(暂无昵称), createdTime=Tue Mar 31 11:03:00 CST 2020, time=2020-03-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1890045, encodeId=fdcd189004548, content=<a href='/topic/show?id=760c430895a' target=_blank style='color:#2F92EE;'>#多发性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=43089, encryptionId=760c430895a, topicName=多发性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=04d6114, createdName=jml2009, createdTime=Sun Nov 03 16:03:00 CST 2019, time=2019-11-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1369462, encodeId=5a5b13694629a, content=<a href='/topic/show?id=bc9f28589d0' target=_blank style='color:#2F92EE;'>#先天性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=28589, encryptionId=bc9f28589d0, topicName=先天性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a435298, createdName=huirong, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1502563, encodeId=da73150256354, content=<a href='/topic/show?id=ef4b2441971' target=_blank style='color:#2F92EE;'>#产前#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24419, encryptionId=ef4b2441971, topicName=产前)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b49a9545081, createdName=qilu_qi, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1559995, encodeId=e18315599951e, content=<a href='/topic/show?id=c1eb9282699' target=_blank style='color:#2F92EE;'>#超声诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=92826, encryptionId=c1eb9282699, topicName=超声诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6ebf15056071, createdName=tcm104hq, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1566004, encodeId=3a9d156600489, content=<a href='/topic/show?id=c1eb9282699' target=_blank style='color:#2F92EE;'>#超声诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=92826, encryptionId=c1eb9282699, topicName=超声诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6ebf15056071, createdName=tcm104hq, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=370366, encodeId=18c03e036611, content=好, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0aa31415219, createdName=orangesking, createdTime=Sat Jul 27 20:12:27 CST 2019, time=2019-07-27, status=1, ipAttribution=)]
  7. [GetPortalCommentsPageByObjectIdResponse(id=1973172, encodeId=781b19e31726d, content=<a href='/topic/show?id=550a2443846' target=_blank style='color:#2F92EE;'>#产前超声#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24438, encryptionId=550a2443846, topicName=产前超声)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=232a2500033, createdName=1249859em38(暂无昵称), createdTime=Tue Mar 31 11:03:00 CST 2020, time=2020-03-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1890045, encodeId=fdcd189004548, content=<a href='/topic/show?id=760c430895a' target=_blank style='color:#2F92EE;'>#多发性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=43089, encryptionId=760c430895a, topicName=多发性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=04d6114, createdName=jml2009, createdTime=Sun Nov 03 16:03:00 CST 2019, time=2019-11-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1369462, encodeId=5a5b13694629a, content=<a href='/topic/show?id=bc9f28589d0' target=_blank style='color:#2F92EE;'>#先天性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=28589, encryptionId=bc9f28589d0, topicName=先天性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a435298, createdName=huirong, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1502563, encodeId=da73150256354, content=<a href='/topic/show?id=ef4b2441971' target=_blank style='color:#2F92EE;'>#产前#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24419, encryptionId=ef4b2441971, topicName=产前)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b49a9545081, createdName=qilu_qi, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1559995, encodeId=e18315599951e, content=<a href='/topic/show?id=c1eb9282699' target=_blank style='color:#2F92EE;'>#超声诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=92826, encryptionId=c1eb9282699, topicName=超声诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6ebf15056071, createdName=tcm104hq, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1566004, encodeId=3a9d156600489, content=<a href='/topic/show?id=c1eb9282699' target=_blank style='color:#2F92EE;'>#超声诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=92826, encryptionId=c1eb9282699, topicName=超声诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6ebf15056071, createdName=tcm104hq, createdTime=Mon Jul 29 11:03:00 CST 2019, time=2019-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=370366, encodeId=18c03e036611, content=好, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0aa31415219, createdName=orangesking, createdTime=Sat Jul 27 20:12:27 CST 2019, time=2019-07-27, status=1, ipAttribution=)]
    2019-07-27 orangesking

    0