Clinical, Genetic and Environmental Factors Associated with Congenital
Clinical, Genetic and Environmental Factors Associated with Congenital
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DOI：
10.1159/000345329
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发表时间：
2013-01-01
影响因子：
1.1
通讯作者：
Pickart, M. A.
中科院分区：
文献类型：
--
作者：
Giampietro, P. F.;Raggio, C. L.;Pickart, M. A.
先天性脊椎畸形(CVM)是一个严重的健康问题，因为除了各种综合征和其他先天性畸形外，它们还可能与脊柱畸形有关，如先天性脊柱侧弯和脊柱后凸。关于先天性脊柱侧弯的自然病史和相关的健康问题，更多的信息仍有待了解。尽管在理解体节形成的过程中取得了重大进展，但对于遗传因素如何促进CVM的发展，我们的理解还存在很大的差距。孕妇妊娠期糖尿病最常导致CVM的发生，其次是其他因素，如缺氧和抗惊厥药物。这篇综述强调了几个与CVM相关的新出现的临床问题，包括先天性脊柱侧弯的肺部和矫形结果。讨论了与CVM发育相关的基因和环境相互作用的遗传学方面的最新突破。与宫颈节段异常有关的Klippel-Feil综合征是一个例子，其中动物模型，如斑马鱼，可以用来提供已识别突变的致病性的功能证据。版权所有(C)2012 S.Karger AG，巴塞尔
Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. Copyright (C) 2012 S. Karger AG, Basel