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Moebius Syndrome: What We Know So Far.梅比厄斯综合征:目前我们所了解的情况。
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本文引用的文献

1
Moebius Syndrome: A Rare Entity or a Missed Diagnosis?梅比厄斯综合征:一种罕见病症还是漏诊?
J Pediatr Neurosci. 2020 Apr-Jun;15(2):128-131. doi: 10.4103/jpn.JPN_72_19. Epub 2020 Jun 27.
2
Mobius Syndrome: A 35-Year Single Institution Experience.莫比乌斯综合征:一项基于单机构的35年经验研究。
J Pediatr Orthop. 2017 Oct/Nov;37(7):e446-e449. doi: 10.1097/BPO.0000000000001009.
3
Rare features associated with Mobius syndrome: Report of two cases.与莫比乌斯综合征相关的罕见特征:两例报告。
J Dent Res Dent Clin Dent Prospects. 2017 Winter;11(1):60-65. doi: 10.15171/joddd.2017.012. Epub 2017 Mar 15.
4
Mobious syndrome: MR findings.莫比乌斯综合征:磁共振成像表现
Indian J Radiol Imaging. 2016 Oct-Dec;26(4):502-505. doi: 10.4103/0971-3026.195790.
5
Moebius sequence -a multidisciplinary clinical approach.默比厄斯序列——一种多学科临床方法。
Orphanet J Rare Dis. 2017 Jan 6;12(1):4. doi: 10.1186/s13023-016-0559-z.
6
MOEBIUS SYNDROME: CHALLENGES OF AIRWAY MANAGEMENT.默比厄斯综合征:气道管理的挑战
Acta Clin Croat. 2016 Mar;55 Suppl 1:94-7.
7
Moebius syndrome: clinical features, diagnosis, management and early intervention.梅比厄斯综合征:临床特征、诊断、管理及早期干预
Ital J Pediatr. 2016 Jun 3;42(1):56. doi: 10.1186/s13052-016-0256-5.
8
Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study.莫比乌斯综合征的骨科表现:病例系列与调查研究
Int J Pediatr. 2016;2016:9736723. doi: 10.1155/2016/9736723. Epub 2016 Feb 8.
9
Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.管理被诊断患有莫比乌斯综合征的儿童:远非表面所见那么简单。
Arch Dis Child. 2016 Sep;101(9):843-6. doi: 10.1136/archdischild-2015-310043. Epub 2016 Feb 11.
10
Isolated left pectoralis major muscle hypoplasia in Poland syndrome.波兰综合征中的孤立性左胸大肌发育不全。
Asian Cardiovasc Thorac Ann. 2017 Mar;25(3):237-238. doi: 10.1177/0218492316629853. Epub 2016 Jul 11.

梅比厄斯综合征:目前我们所了解的情况。

Moebius Syndrome: What We Know So Far.

作者信息

Zaidi Syed Muhammad Hussain, Syed Izna Najam, Tahir Umair, Noor Tayyaba, Choudhry Muhammad Saad

机构信息

Internal Medicine, Dow University of Health Sciences, Civil Hospital Karachi, Karachi, PAK.

Internal Medicine, Rawalpindi Medical University, Karachi, PAK.

出版信息

Cureus. 2023 Feb 19;15(2):e35187. doi: 10.7759/cureus.35187. eCollection 2023 Feb.

DOI:10.7759/cureus.35187
PMID:36960250
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10030064/
Abstract

Moebius syndrome (MBS) is a rare congenital cranial nerve disorder characterized by unilateral, bilateral symmetrical, or asymmetrical facial (VII) and abducens (VI) nerve palsies. Genetics and rhombencephalon vascular disturbances from intrauterine environmental exposures have been attributed to its development. It can present with various orofacial abnormalities. Although the diagnosis is purely clinical, certain characteristic features are present in the brain's images. With no cure, it is essential to devise management on a personalized basis. We discuss etiology, presentation, diagnostic approaches, and effective management in the existing literature. This comprehensive review examines the clinic-pathological aspects of Moebius syndrome. The authors employed the PUBMED base index to identify pertinent literature and reference it according to research keywords. Findings suggest the most popular etiology is the theory of intrauterine vascular disruption to the brainstem during embryogenesis, followed by the genetic hypothesis. Intrauterine environmental exposures have been implicated as potential risk factors. Facial and abducens nerve palsies are the most common presenting features. However, clinical manifestations of lower cranial nerves (IX, X, XI, XII) may be present with orthopedic anomalies and intellectual deficiencies. The diagnosis is clinical with minimal defined diagnostic criteria. Characteristic radiological manifestations involving the brainstem and cerebellum can be observed in imaging studies. With no definitive treatment options, a multidisciplinary approach is employed to provide supportive care. Despite radiological manifestations, Moebius syndrome is diagnosed clinically. Although incurable, a multidisciplinary approach, with personalized rehabilitative measures, can manage physical and psychological deficits; however, standard guidelines need to be established.

摘要

梅比厄斯综合征(MBS)是一种罕见的先天性颅神经疾病,其特征为单侧、双侧对称或不对称的面部(VII)和外展(VI)神经麻痹。遗传学因素以及子宫内环境暴露导致的菱脑血管紊乱被认为与该病的发生有关。它可能伴有各种口面部异常。尽管诊断完全基于临床,但脑部影像中存在某些特征性表现。由于无法治愈,制定个性化的治疗方案至关重要。我们在现有文献中讨论了病因、临床表现、诊断方法和有效治疗措施。这篇全面的综述探讨了梅比厄斯综合征的临床病理方面。作者利用PUBMED基础索引来识别相关文献,并根据研究关键词进行引用。研究结果表明,最常见的病因是胚胎发育过程中子宫内血管对脑干的破坏理论,其次是遗传假说。子宫内环境暴露被认为是潜在的风险因素。面部和外展神经麻痹是最常见的临床表现。然而,较低颅神经(IX、X、XI、XII)的临床表现可能伴有骨科异常和智力缺陷。诊断主要依靠临床,诊断标准定义极少。在影像学研究中可以观察到涉及脑干和小脑的特征性放射学表现。由于没有明确的治疗选择,采用多学科方法提供支持性护理。尽管有放射学表现,但梅比厄斯综合征仍通过临床诊断。尽管无法治愈,但采用多学科方法并结合个性化康复措施,可以管理身体和心理缺陷;然而,需要建立标准指南。