先天性胫骨前脱位合并美尔戈林综合征：病例报告

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详细

论证。美尔戈林综合征（Meier-Gorlin syndrome）是一种罕见的遗传性疾病。美尔戈林综合征是一种常染色体隐性遗传病，其特点是典型的三联症：小耳症、很小或完全没有髌骨和纳米症。

临床观察。本研究介绍了一例患有美尔戈林综合征合并先天性胫骨前脱位的俄罗斯患者。主要的临床表现是小耳症、髌骨病变和纳米症。

讨论。在创伤骨科医生的实践中，先天性胫骨前脱位的病例非常罕见，尤其是作为综合征的一部分，这使得这个病例很有意思。对我们观察到的病人以及文献中描述的病人的数据分析表明，在临床检查中存在着提示美尔戈林综合征的典型临床表现。

结论。本报告介绍了俄罗斯联邦第一例合并先天性胫骨前脱位和美尔戈林综合征的病例。采用永久牵引和屈曲的保守治疗应避免胫骨近端成角。如果保守治疗不能奏效，则可采用各种方法进行手术治疗。

作者简介

Igor Kruglov

Almazov National Medical Research Centre; H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Email: dr.gkruglov@gmail.com
ORCID iD: 0000-0003-1234-1390
SPIN 代码: 7777-1047

paediatric orthopaedic surgeon, junior researcher of Research Laboratory of congenital and hereditary pathology surgery

俄罗斯联邦, 2 Akkuratova str., Saint Petersburg, 197341; Saint Petersburg

Nicolai Rumyantsev

Almazov National Medical Research Centre

Email: dr.rumyantsev@gmail.com
ORCID iD: 0000-0002-4956-6211

MD, paediatric orthopaedic surgeon

俄罗斯联邦, 2 Akkuratova str., Saint Petersburg, 197341

Gamzat Omarov

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery; North-Western State Medical University named after I.I. Mechnikov

Email: ortobaby@yandex.ru
ORCID iD: 0000-0002-9252-8130

MD, PhD, research associate

俄罗斯联邦, 196603, St. Petersburg, Pushkin, Parkovaya str., 64-68; Saint Petersburg

Natalia Rumyantseva

Almazov National Medical Research Centre

Email: natachazlaya@mail.ru
ORCID iD: 0000-0002-2052-451X

MD, paediatric orthopaedic surgeon, junior researcher of Research Laboratory of congenital and hereditary pathology surgery

俄罗斯联邦, 2 Akkuratova str., Saint Petersburg, 197341

Ilya Kagantsov

Institute of Perinatology and Pediatrics, Almazov National Medical Research Centre; North-Western State Medical University named after I.I. Mechnikov

编辑信件的主要联系方式.
Email: ilkagan@rambler.ru
ORCID iD: 0000-0002-3957-1615
SPIN 代码: 7936-8722

MD, PhD, D.Sc., Chief Researcher, Professor of the Chair

俄罗斯联邦, 2 Akkuratova str., Saint Petersburg, 197341; Saint Petersburg

参考

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补充文件

附件文件
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1. JATS XML
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2. 图 1 P.患者，年龄1小时。治疗前：a—外观；b—射线照片

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3. 图 2 P.患者，10天，治疗期间：a—保留胫骨前脱位，髌骨发育不全，右股骨干骺端撞击性骨折；b—显示骨折线

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4. 图 3 P.患者，3个月大，V-Y-四头肌痉挛术和前部释放术

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5. Fig. 4.

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6. 图 4 P.患者，10岁，治疗后：a—前视图；b—后视图；c—侧视图；d—膝关节可能出现弯曲；e—外观（鼻子窄，鼻中隔高，耳朵小）

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7. Fig. 5.

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8. 图 5 P.患者，10岁，治疗后的X光照片：a—直接投影；b—右膝关节的侧向投影（髌骨增生）；c—左膝关节的侧向投影（髌骨增生）

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版权所有 © Kruglov I., Rumyantsev N., Omarov G., Rumyantseva N., Kagantsov I., 2021

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