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本文引用的文献

1
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.对D4Z4临界等位基因携带者进行的大型基因型-表型研究为面肩肱型肌营养不良症的诊断提供了指导。
Sci Rep. 2020 Dec 10;10(1):21648. doi: 10.1038/s41598-020-78578-7.
2
Characterizing the face in facioscapulohumeral muscular dystrophy.描述面肩肱型肌营养不良症的面容。
J Neurol. 2021 Apr;268(4):1342-1350. doi: 10.1007/s00415-020-10281-z. Epub 2020 Oct 28.
3
Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis.出生时预期寿命在杜氏肌营养不良症中的研究:系统评价和荟萃分析。
Eur J Epidemiol. 2020 Jul;35(7):643-653. doi: 10.1007/s10654-020-00613-8. Epub 2020 Feb 27.
4
Facioscapulohumeral Muscular Dystrophies.面肩肱型肌营养不良症
Continuum (Minneap Minn). 2019 Dec;25(6):1662-1681. doi: 10.1212/CON.0000000000000801.
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Muscular dystrophies.肌肉萎缩症。
Lancet. 2019 Nov 30;394(10213):2025-2038. doi: 10.1016/S0140-6736(19)32910-1.
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3D Facial morphology in children affected by spinal muscular atrophy type 2 (SMAII).2 型脊肌萎缩症(SMAII)患儿的 3D 面部形态。
Eur J Orthod. 2020 Nov 3;42(5):500-508. doi: 10.1093/ejo/cjz071.
7
Effects of weakness of orofacial muscles on swallowing and communication in FSHD.面颌部肌肉无力对 FSHD 患者吞咽和交流功能的影响。
Neurology. 2019 Feb 26;92(9):e957-e963. doi: 10.1212/WNL.0000000000007013. Epub 2019 Jan 25.
8
Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy.先天性或儿童期起病的强直性肌营养不良症年轻患者的颅面形态与生长发育
Eur J Orthod. 2018 Sep 28;40(5):544-548. doi: 10.1093/ejo/cjx104.
9
Growing patients with Duchenne muscular dystrophy: longitudinal changes in their dentofacial morphology and orofacial functional capacities.进行性杜氏肌营养不良症患者:其牙颌面形态和口面部功能能力的纵向变化
Eur J Orthod. 2018 Apr 6;40(2):140-148. doi: 10.1093/ejo/cjx038.
10
[Features of facioscapulohumeral muscular dystrophy in oral and maxillofacial region and MRI analysis of facial muscles].[面肩肱型肌营养不良症在口腔颌面部的特征及面部肌肉的MRI分析]
Zhonghua Kou Qiang Yi Xue Za Zhi. 2016 Dec 9;51(12):739-745. doi: 10.3760/cma.j.issn.1002-0098.2016.12.008.

与肌营养不良相关的口面部表现:综述

Orofacial Manifestations Associated with Muscular Dystrophies: A Review.

作者信息

Papaefthymiou Petros, Kekou Kyriaki, Özdemir Fulya

机构信息

Department of Orthodontics, Marmara University, Faculty of Dentistry, İstanbul, Turkey.

Department of Medical Genetics, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.

出版信息

Turk J Orthod. 2022 Mar;35(1):67-73. doi: 10.5152/TurkJOrthod.2021.21021.

DOI:10.5152/TurkJOrthod.2021.21021
PMID:35370136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9128359/
Abstract

The aim of this review is to evaluate the developmental, functional, and morphological aspects of the craniofacial complex in patients with myotonic dystrophy type 1 (DM1), Facioscapulohumeral muscular dystrophy (FSHD), and Duchenne muscular dystrophy (DMD). The degree of disease onset and severity varied from patient to patient, and most parameters indicated a greater degree of deterioration in older patients. It was found that all the muscular dystrophies studied showed altered craniofacial morphology, with malocclusion as the most consistent clinical characteristic. Particularly DM1 patients, who are the most studied, showed significant vertical aberration and post-normal occlusion. DMD patients are reported mainly with altered dental arch dimensions which influence functional capacities. Data for FSHD patients are very limited, but facial asymmetry and muscular weakness appear to be the most prominent findings. Patients with muscular dystrophies present deviations in growth and development as well as in orofacial morphology. Increased prevalence of malocclusions, of both skeletal and dental origins, characterize patients with muscular dystrophies. Different dentofacial characteristics are reported among patients with different types of muscular dystrophies. Further research is needed to clarify the orofacial phenotypic expression of muscular dystrophies.

摘要

本综述的目的是评估1型强直性肌营养不良(DM1)、面肩肱型肌营养不良(FSHD)和杜氏肌营养不良(DMD)患者颅面复合体的发育、功能和形态学方面。疾病的发病程度和严重程度因患者而异,大多数参数表明老年患者的恶化程度更大。研究发现,所有研究的肌营养不良症均显示颅面形态改变,错牙合是最一致的临床特征。特别是研究最多的DM1患者,表现出明显的垂直偏差和后正常咬合。DMD患者主要报告牙弓尺寸改变,这会影响功能能力。FSHD患者的数据非常有限,但面部不对称和肌肉无力似乎是最突出的发现。肌营养不良症患者在生长发育以及口面部形态方面存在偏差。骨骼和牙齿来源的错牙合患病率增加是肌营养不良症患者的特征。不同类型肌营养不良症患者报告了不同的牙颌面特征。需要进一步研究以阐明肌营养不良症的口面部表型表达。