Abstract：
BACKGROUND: The aim of this systematic review (Prospero CRD42022323188) is to investigate whether an association exists in patients with amelogenesis imperfecta (AI) between occlusal characteristics and genotype on the one hand and enamel structural phenotype on the other.
METHODS: Reports up to May 2023 assessing occlusion of individuals with AI were browsed in a systematic search using Medline, Embase, ISI Web of Science, and the grey literature. Randomised control trials, case control studies, and case series specifying both occlusion, assessed by cephalometric or clinical analysis, and genotype or dental phenotype in patients with AI were included without any age limitation. Two authors independently selected the publications and extracted the data in accordance with the PRISMA statement. The risk of bias was assessed with the Critical Appraisal Checklists from the Johanna Briggs Institute.
RESULTS: Twenty-five articles were chosen from the 261 results. Most of the included publications were case series (n=22) and case control studies (n=3). Thirteen studies reported both a genotype (ENAM, FAM83H, FAM20A, DLX3, CNMM4, WDR72) and occlusal diagnostic. The methodological quality of the studies was moderate. All AI phenotypes showed an open bite (OB) rate around 35%, except mixed form. The other malocclusions were not often mentioned. No correlation between occlusal phenotype and genotype or AI phenotype could be identified in patients with AI, as most studies had short occlusal descriptions and small sample sizes.
CONCLUSIONS: OB malocclusions were more frequently reported in AI. This review highlighted the need for a more accurate description of orofacial features associated with AI, to better clarify the role of amelogenesis genes in the regulation of craniofacial morphogenesis and identify patients requiring orthognathic surgery at an early stage.
METHODS: Reports up to May 2023 assessing occlusion of individuals with AI were browsed in a systematic search using Medline, Embase, ISI Web of Science, and the grey literature. Randomised control trials, case control studies, and case series specifying both occlusion, assessed by cephalometric or clinical analysis, and genotype or dental phenotype in patients with AI were included without any age limitation. Two authors independently selected the publications and extracted the data in accordance with the PRISMA statement. The risk of bias was assessed with the Critical Appraisal Checklists from the Johanna Briggs Institute.
RESULTS: Twenty-five articles were chosen from the 261 results. Most of the included publications were case series (n=22) and case control studies (n=3). Thirteen studies reported both a genotype (ENAM, FAM83H, FAM20A, DLX3, CNMM4, WDR72) and occlusal diagnostic. The methodological quality of the studies was moderate. All AI phenotypes showed an open bite (OB) rate around 35%, except mixed form. The other malocclusions were not often mentioned. No correlation between occlusal phenotype and genotype or AI phenotype could be identified in patients with AI, as most studies had short occlusal descriptions and small sample sizes.
CONCLUSIONS: OB malocclusions were more frequently reported in AI. This review highlighted the need for a more accurate description of orofacial features associated with AI, to better clarify the role of amelogenesis genes in the regulation of craniofacial morphogenesis and identify patients requiring orthognathic surgery at an early stage.
摘要：
背景：本系统综述（ProsperoCRD4202223188）的目的是研究牙釉质不全症（AI）患者的咬合特征和基因型与牙釉质结构表型之间是否存在关联。
方法：在系统搜索中使用Medline浏览截至2023年5月的报告，以评估AI个体的遮挡，Embase,ISIWebofScience,灰色文学。随机对照试验,病例对照研究,和指定两个遮挡的案例序列，通过头颅测量或临床分析评估，包括AI患者的基因型或牙齿表型，没有任何年龄限制。两位作者根据PRISMA声明独立选择了出版物并提取了数据。使用JohannaBriggs研究所的关键评估清单评估了偏差的风险。
结果：从261个结果中选择了25篇文章。大多数纳入的出版物是病例系列（n=22）和病例对照研究（n=3）。13项研究报告了两种基因型(ENAM，FAM83H,FAM20A,DLX3，CNMM4，WDR72）和咬合诊断。研究的方法学质量中等。所有AI表型显示开放咬伤（OB）率约为35％，除了混合形式。其他咬合不常被提及。在AI患者中，咬合表型与基因型或AI表型之间没有相关性，因为大多数研究的咬合描述短，样本量小。
结论：OB咬合不正在AI中更常见。这篇评论强调了需要更准确地描述与人工智能相关的口面特征，为了更好地阐明牙釉质发生基因在颅面形态发生调节中的作用，并在早期阶段识别需要正颌手术的患者。
方法：在系统搜索中使用Medline浏览截至2023年5月的报告，以评估AI个体的遮挡，Embase,ISIWebofScience,灰色文学。随机对照试验,病例对照研究,和指定两个遮挡的案例序列，通过头颅测量或临床分析评估，包括AI患者的基因型或牙齿表型，没有任何年龄限制。两位作者根据PRISMA声明独立选择了出版物并提取了数据。使用JohannaBriggs研究所的关键评估清单评估了偏差的风险。
结果：从261个结果中选择了25篇文章。大多数纳入的出版物是病例系列（n=22）和病例对照研究（n=3）。13项研究报告了两种基因型(ENAM，FAM83H,FAM20A,DLX3，CNMM4，WDR72）和咬合诊断。研究的方法学质量中等。所有AI表型显示开放咬伤（OB）率约为35％，除了混合形式。其他咬合不常被提及。在AI患者中，咬合表型与基因型或AI表型之间没有相关性，因为大多数研究的咬合描述短，样本量小。
结论：OB咬合不正在AI中更常见。这篇评论强调了需要更准确地描述与人工智能相关的口面特征，为了更好地阐明牙釉质发生基因在颅面形态发生调节中的作用，并在早期阶段识别需要正颌手术的患者。
