上海交通大学学报（医学版）

上海交通大学学报（医学版）

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颅缝早闭相关信号通路及遗传学研究进展

许震宇，鲍 南   

  1. 上海交通大学 医学院附属上海儿童医学中心神经外科, 上海 200127
  • 出版日期:2014-07-28 发布日期:2014-08-11
  • 通讯作者: 鲍 南, 电子信箱: bnscmc@shsmu.edu.cn。
  • 作者简介:许震宇（1987—）， 男， 硕士生; 电子信箱: supersampson@sina.com。

Research progresses of signaling pathways and genetics relevant to craniosynostosis

XU Zhen-yu, BAO Nan   

  1. Department of Neurosurgery，Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
  • Online:2014-07-28 Published:2014-08-11

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摘要：

先天性颅缝早闭，又称狭颅症，是一种较为常见的颅额面发育畸形，该疾病可严重影响外观，部分可阻碍智力发育，造成严重的神经及心理障碍。研究该疾病的遗传规律对其诊断及防治具有重大意义。该文从颅骨及颅缝发育理论、分子信号通路以及遗传学研究方面，对先天颅缝早闭致病机制的研究现状及进展作一综述。

关键词: 颅缝早闭, 信号通路, 遗传机制

Abstract:

Craniosynostosis, also known as craniostenosis, is a common cranial facies frontalis malformation. It can seriously affect the appearance, partly hinder the mental development, and cause severe neurological and psychological disorders. To study the genetic rule of this disease is important for its diagnosis and prevention. This paper reviews the researches and progresses of mechanisms of cranial suture fusion from perspectives of the theories of skull and cranial suture development, molecular signaling pathways and genetics.

Key words: craniosynostosis, signaling pathway, genetic mechanisms