先天性胫骨前脱位合并美尔戈林综合征:病例报告
- 作者: Kruglov I.Y.1,2, Rumyantsev N.Y.1, Omarov G.G.3,4, Rumyantseva N.N.1, Kagantsov I.M.5,4
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隶属关系:
- Almazov National Medical Research Centre
- H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
- H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery
- North-Western State Medical University named after I.I. Mechnikov
- Institute of Perinatology and Pediatrics, Almazov National Medical Research Centre
- 期: 卷 9, 编号 4 (2021)
- 页面: 447-454
- 栏目: Clinical cases
- URL: https://bakhtiniada.ru/turner/article/view/62569
- DOI: https://doi.org/10.17816/PTORS62569
- ID: 62569
如何引用文章
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。
关键词
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 PetersburgNicolai 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, 197341Gamzat 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 PetersburgNatalia 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, 197341Ilya 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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