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揭开米勒综合征的表型谱:一个系统的审查

Victor L van Roey^1,2, Saranda Ombashi^1,3, Idilay Kaymaz²

¹European Reference Network for rare and/or complex craniofacial anomalies and ear, nose, and throat disorders.

The Journal of craniofacial surgery

|May 19, 2025

概括

米勒综合征是一种罕见的面部静止障碍,呈现出显著的面和四肢异常. 本研究详细介绍了其广泛的表型谱,以帮助对类似条件的差异诊断.

科学领域:

遗传学和罕见疾病
临床形学临床形学临床形学
儿科综合征学儿科综合征学

背景情况:

米勒综合征是一种异常罕见的面异位症,与特雷切尔·柯林斯和纳格综合征有显著的表型重叠.
了解米勒综合征的全谱对于准确的诊断和管理至关重要.
对于许多报告的病例,存在有限的遗传确认.

研究的目的:

为了划分米勒综合征的表型谱.
提供全面的概述,以促进区分与相关的面部静止症综合征.
为表型评估提供详细的检查清单.

主要方法:

在2024年11月之前对Embase,MEDLINE/PubMed,Web of Science和CINAHL的系统文献搜索.
包括病例报告和病例系列,其中包括Miller综合征的临床或遗传诊断.
使用乔安娜·布里格斯研究所的批判性评价工具和Fichas de Lectura Critica 3.0.0进行质量评估.

主要成果:

分析了44例米勒综合征病例;只有18.2%的人有遗传确认.
显著的面异常包括中面低成形 (72.7%),微 (75.0%),口面裂 (77.3%),眼 (70.5%),外耳异常 (63.6%).
肢体异常是普遍的 (100%),主要影响手 (95.5%),脚 (90.9%) 和前臂 (52.3%).

结论:

这项研究为米勒综合征的表型谱提供了宝贵的见解,尽管依赖文学和有限的遗传确认.
国际合作和全面的报告对于推进罕见病的研究和护理至关重要.
为临床实用性提供了详细的表型评估检查清单.

关键词:

面部形位障碍症 (Acrofacial Dysostosis) 是一种面部位障碍症.基尼 - 维德曼综合征是什么?米勒综合征是什么意思米勒综合征是什么意思豆子豆子豆子维尔德万克-史密斯综合征是什么意思后轴性秋静止症 (英语:post-axial acrodysostosis) 是一种后轴性秋静止症.系统性审查系统性审查

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