In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017.

中文翻译：

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颅骨前突的遗传原因：更新。

1993年，Jabs等人。最早描述颅骨突触的遗传起源。自从发现以来，已经描述了最常见综合征的遗传原因。在2015年，总共报告了57个人类基因，这些基因有证据表明突变与颅脑前突形成有因果关系。此后，在快速的技术发展的推动下，发现了许多其他问题。回顾文献，我们描述了最常见的颅突综合征的特征，然后描述了2015年1月至2017年12月间发现的新病因。