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双侧先天性高肩胛症、镜像运动联带运动及多发性先天性关节挛缩症:一种新的组合。

Bilateral Sprengel Deformities, Mirror Movements Synkinesis, and Arthrogryposis Multiplex Congenita: A Novel Combination.

作者信息

Chitten Jojin Jose, James Boblee

机构信息

Department of Orthopaedics, Sri Lakshmi Narayana Medical College, Puducherry, India.

出版信息

J Orthop Case Rep. 2024 Mar;14(3):13-17. doi: 10.13107/jocr.2024.v14.i03.4270.

DOI:10.13107/jocr.2024.v14.i03.4270
PMID:38560296
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10976556/
Abstract

INTRODUCTION

Bilateral Sprengel deformities, mirror movements synkinesis, and arthrogryposis are described in different combinations in various syndromes but never together.

CASE REPORT

We present a 12-year-old girl who presented with bilateral shoulder deformities and difficulty in coordination while writing. On examination, she was noted to have bilateral Sprengel deformities with flexion contractures of upper-limb joints and mirror movements of both upper and lower-limb joints.

CONCLUSION

In the light of relevant literature, we may speculate that these three have a causal relation and even a genetic basis but further studies are needed to prove the same.

摘要

引言

双侧先天性高肩胛症、镜像运动联带运动和先天性多发性关节挛缩症在不同综合征中有不同组合的描述,但从未同时出现过。

病例报告

我们报告一名12岁女孩,她出现双侧肩部畸形及书写时协调困难。检查发现,她患有双侧先天性高肩胛症,伴有上肢关节屈曲挛缩以及上下肢关节的镜像运动。

结论

根据相关文献,我们推测这三者之间可能存在因果关系甚至遗传基础,但需要进一步研究加以证实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/3183b3616a7e/JOCR-14-13-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/fa71077793bb/JOCR-14-13-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/7f1b14f4b52e/JOCR-14-13-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/75baa5066994/JOCR-14-13-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/e53c189524df/JOCR-14-13-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/536f14b6c153/JOCR-14-13-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/3183b3616a7e/JOCR-14-13-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/fa71077793bb/JOCR-14-13-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/7f1b14f4b52e/JOCR-14-13-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/75baa5066994/JOCR-14-13-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/e53c189524df/JOCR-14-13-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/536f14b6c153/JOCR-14-13-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d7c/10976556/3183b3616a7e/JOCR-14-13-g006.jpg

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Bilateral Sprengel Deformities, Mirror Movements Synkinesis, and Arthrogryposis Multiplex Congenita: A Novel Combination.双侧先天性高肩胛症、镜像运动联带运动及多发性先天性关节挛缩症:一种新的组合。
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Congenital Mirror Movements in Gorlin Syndrome: A Case Report With DTI and Functional MRI Features.先天性镜像运动在神经纤维瘤病中的表现:一份伴有 DTI 和 fMRI 特征的病例报告。
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Mirror movements identified in patients with moebius syndrome.在莫比乌斯综合征患者中发现的镜像运动。
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Diagnosing arthrogryposis multiplex congenita: a review.先天性多发性关节挛缩症的诊断:综述
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The association of Chiari type III malformation and Klippel-Feil syndrome with mirror movement: a case report.Chiari III型畸形和Klippel-Feil综合征与镜像运动的关联:一例报告
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Arthrogryposis multiplex congenital in a child manifesting phenotypic features resembling dysosteosclerosis/osteosclerosis malformation complex; 3DCT scan analysis of the skull base.一名表现出类似骨发育不全/骨硬化畸形综合征表型特征儿童的先天性多发性关节挛缩症;颅底的三维CT扫描分析
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