Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Am J Med Genet A. 2011 Feb;155A(2):270-9. doi: 10.1002/ajmg.a.33702. Epub 2010 Dec 10.
The craniofacial region is assembled through the active migration of cells and the rearrangement and sculpting of facial prominences and pharyngeal arches, which consequently make it particularly susceptible to a large number of birth defects. Genetic, molecular, and cellular processes must be temporally and spatially regulated to culminate in the three-dimension structures of the face. The starting constituent for the majority of skeletal and connective tissues in the face is a pluripotent population of cells, the cranial neural crest cells (NCCs). In this review we discuss the newest scientific findings in the development of the craniofacial complex as related to NCCs. Furthermore, we present recent findings on NCC diseases called neurocristopathies and, in doing so, provide clinicians with new tools for understanding a growing number of craniofacial genetic disorders.
颅面区域是通过细胞的主动迁移以及面突和咽弓的重新排列和塑造而组装的,这使得它特别容易受到大量出生缺陷的影响。遗传、分子和细胞过程必须在时间和空间上受到调节,才能最终形成面部的三维结构。面部大多数骨骼和结缔组织的起始成分是多能细胞群,即颅神经嵴细胞(NCC)。在这篇综述中,我们讨论了与 NCC 相关的颅面复合体发育的最新科学发现。此外,我们还介绍了最近关于 NCC 疾病的发现,即神经嵴疾病,并为临床医生提供了新的工具,以帮助他们理解越来越多的颅面遗传性疾病。