Abstract：
Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders associated with decreased fetal movement, with a prevalence between 1/3000 and 1/5200 live births. Typical features of AMC include multiple joint contractures present at birth, and can affect all joints of the body, from the jaw, and involving the upper limbs, lower limbs and spine. The jaws may be affected in 25 % of individuals with AMC, with limited jaw movement and mouth opening. Other oral and maxillofacial deformities may be present in AMC, including cleft palate, micrognathia, periodontitis and delayed teething. To our knowledge, oral and maxillofacial abnormalities have not been systematically assessed in individuals with AMC. Therefore, this scoping review was conducted to identify, collect, and describe a comprehensive map of the existing knowledge on dental and maxillofacial involvement in individuals with AMC.
A scoping review was conducted in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews guidelines. The PRISMA guidelines for scoping reviews were followed and databases were searched for empirical articles in English and French published until October 2022. We searched MEDLINE, Embase, Web of Science and ERIC databases. Two authors independently reviewed the articles and extracted the data.
Of a total of 997 studies that were identified, 96 met the inclusion criteria and were subsequently included in this scoping review. These 96 studies collectively provided insights into 167 patients who exhibited some form of oral and/or maxillofacial involvement. Notably, 25 % of these patients were within the age range of 0-6 months. It is worth highlighting that only 22 out of the 96 studies (22.9 %), had the primary objective of evaluating dental and/or maxillofacial deformities. Among the patients studied, a prevalent pattern emerged, revealing that severe anomalies such as micrognathia (56 %), high-arched palate (29 %), cleft palate (40 %), limited mouth opening (31 %), and dental anomalies (28 %) were frequently observed. Importantly, many of these patients were found to have more than one of these anomalies. Even though these maxillofacial impairments are known to be associated with dental problems (e.g., cleft palate is associated with oligodontia, hypodontia, and malocclusion), their secondary effects on the dental phenotype were not reported in the studies.
Our findings have uncovered a notable deficiency in existing literature concerning dental and maxillofacial manifestations in AMC. This underscores the need for interdisciplinary collaboration and the undertaking of extensive prospective cohort studies focused on AMC. These studies should assess the oral and maxillofacial abnormalities that can impact daily functioning and overall quality of life.
A scoping review was conducted in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews guidelines. The PRISMA guidelines for scoping reviews were followed and databases were searched for empirical articles in English and French published until October 2022. We searched MEDLINE, Embase, Web of Science and ERIC databases. Two authors independently reviewed the articles and extracted the data.
Of a total of 997 studies that were identified, 96 met the inclusion criteria and were subsequently included in this scoping review. These 96 studies collectively provided insights into 167 patients who exhibited some form of oral and/or maxillofacial involvement. Notably, 25 % of these patients were within the age range of 0-6 months. It is worth highlighting that only 22 out of the 96 studies (22.9 %), had the primary objective of evaluating dental and/or maxillofacial deformities. Among the patients studied, a prevalent pattern emerged, revealing that severe anomalies such as micrognathia (56 %), high-arched palate (29 %), cleft palate (40 %), limited mouth opening (31 %), and dental anomalies (28 %) were frequently observed. Importantly, many of these patients were found to have more than one of these anomalies. Even though these maxillofacial impairments are known to be associated with dental problems (e.g., cleft palate is associated with oligodontia, hypodontia, and malocclusion), their secondary effects on the dental phenotype were not reported in the studies.
Our findings have uncovered a notable deficiency in existing literature concerning dental and maxillofacial manifestations in AMC. This underscores the need for interdisciplinary collaboration and the undertaking of extensive prospective cohort studies focused on AMC. These studies should assess the oral and maxillofacial abnormalities that can impact daily functioning and overall quality of life.
摘要：
背景：多发性先天性关节炎（AMC）是一组与胎动减少相关的异质性疾病，患病率在1/3000和1/5200活产之间。AMC的典型特征包括出生时出现的多个关节挛缩，可以影响身体的所有关节，从下巴，涉及上肢，下肢和脊柱。25％的AMC患者的颌骨可能会受到影响，与有限的下颚运动和张嘴。AMC中可能存在其他口腔和颌面畸形，包括腭裂,小颌畸形,牙周炎和延迟出牙。据我们所知,尚未对AMC患者的口腔和颌面部异常进行系统评估.因此,进行这项范围审查是为了确定，收集,并描述AMC患者有关牙齿和颌面受累的现有知识的综合图。
方法：根据系统评价和Meta分析扩展的首选报告项目进行范围评价。遵循PRISMA范围审查指南，并在数据库中搜索到2022年10月之前出版的英语和法语经验文章。我们搜索了MEDLINE,Embase,WebofScience和ERIC数据库。两位作者独立回顾了文章并提取了数据。
结果：在确定的997项研究中，96符合纳入标准，随后被纳入本次范围审查。这96项研究共同为167例表现出某种形式的口腔和/或颌面部受累的患者提供了见解。值得注意的是,这些患者中有25％在0-6个月的年龄范围内。值得强调的是，96项研究中只有22项(22.9%)，主要目的是评估牙齿和/或颌面畸形。在研究的患者中，一种普遍的模式出现了，揭示了严重的异常，如微下颌(56%)，高拱形腭（29%），腭裂(40%),张口有限(31%)，经常观察到牙齿异常（28％）。重要的是,其中许多患者被发现有不止一种异常。即使已知这些颌面损伤与牙科问题有关(例如，腭裂与少突有关,缺省症,和错牙合)，研究中未报道它们对牙齿表型的次要影响.
结论：我们的发现揭示了有关AMC中牙齿和颌面部表现的现有文献中的明显不足。这强调了跨学科合作的必要性，以及开展以AMC为重点的广泛前瞻性队列研究的必要性。这些研究应评估可能影响日常功能和整体生活质量的口腔和颌面部异常。
方法：根据系统评价和Meta分析扩展的首选报告项目进行范围评价。遵循PRISMA范围审查指南，并在数据库中搜索到2022年10月之前出版的英语和法语经验文章。我们搜索了MEDLINE,Embase,WebofScience和ERIC数据库。两位作者独立回顾了文章并提取了数据。
结果：在确定的997项研究中，96符合纳入标准，随后被纳入本次范围审查。这96项研究共同为167例表现出某种形式的口腔和/或颌面部受累的患者提供了见解。值得注意的是,这些患者中有25％在0-6个月的年龄范围内。值得强调的是，96项研究中只有22项(22.9%)，主要目的是评估牙齿和/或颌面畸形。在研究的患者中，一种普遍的模式出现了，揭示了严重的异常，如微下颌(56%)，高拱形腭（29%），腭裂(40%),张口有限(31%)，经常观察到牙齿异常（28％）。重要的是,其中许多患者被发现有不止一种异常。即使已知这些颌面损伤与牙科问题有关(例如，腭裂与少突有关,缺省症,和错牙合)，研究中未报道它们对牙齿表型的次要影响.
结论：我们的发现揭示了有关AMC中牙齿和颌面部表现的现有文献中的明显不足。这强调了跨学科合作的必要性，以及开展以AMC为重点的广泛前瞻性队列研究的必要性。这些研究应评估可能影响日常功能和整体生活质量的口腔和颌面部异常。
