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-  2015 

Klippel-Feil综合征合并耳畸形的研究进展

DOI: doi:10.7507/1002-1892.20150307

Keywords: Klippel-Feil综合征, 颈椎融合, 先天发育异常, 耳畸形, 听力障碍

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Abstract:

目的总结Klippel-Feil综合征及其合并耳畸形的临床、发育和遗传研究进展。 方法广泛查阅国内外有关Klippel-Feil综合征合并耳畸形的临床、基础相关研究文献,并进行总结分析。 结果Klippel-Feil综合征临床表现和分型复杂,其中耳畸形主要引起听力障碍和外观异常;目前耳畸形在该病中的发生机制仍不清楚,与其他部位畸形的联系缺乏系统深入的研究;Klippel-Feil综合征合并耳畸形治疗的前提是准确诊断和全面的病情评估,开展多学科合作是未来治疗该病重要的临床实践方向。 结论耳畸形作为Klippel-Feil综合征中最重要的先天畸形之一,其病因学应着重于发育和遗传机制的研究,而临床诊疗需遵循多学科合作模式,并注意与其他综合征性耳畸形进行鉴别

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