Proper craniofacial development in vertebrates depends on growth and fusion of the facial processes during embryogenesis. Failure of any step in this process could lead to craniofacial anomalies such as facial clefting, which has been well studied with regard to its molecular etiology and cellular pathogenesis. Nasal cavity invagination is also a critical event in proper craniofacial development, and is required for the formation of a functional nasal cavity and airway. The nasal cavity must connect the nasopharynx with the primitive choanae to complete an airway from the nostril to the nasopharynx. In contrast to orofacial clefts, defects in nasal cavity and airway formation, such as choanal atresia (CA), in which the connection between the nasal airway and nasopharynx is physically blocked, have largely been understudied. This is also true for a narrowed connection between the nasal cavity and the nasopharynx, which is known as choanal stenosis (CS). CA occurs in approximately 1 in 5,000 live births, and can present in isolation but typically arises as part of a syndrome. Despite the fact that CA and CS usually require immediate intervention, and substantially affect the quality of life of affected individuals, the etiology and pathogenesis of CA and CS have remained elusive. In this review I focus on the process of nasal cavity development with respect to forming a functional airway and discuss the cellular behavior and molecular networks governing this process. Additionally, the etiology of human CA is discussed using examples of disorders which involve CA or CS. This article is categorized under: Signaling Pathways > Cell Fate Signaling Comparative Development and Evolution > Model Systems Birth Defects > Craniofacial and Nervous System Anomalies.

中文翻译：

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胆道闭锁和狭窄：鼻腔的发育和疾病。

脊椎动物中正确的颅面发育取决于胚胎发生过程中面部过程的生长和融合。该过程中任何步骤的失败都可能导致颅面异常，例如面部裂伤，就其分子病因学和细胞发病机理进行了深入研究。鼻腔内陷也是正常颅面发育的关键事件，并且是形成功能性鼻腔和气道所必需的。鼻腔必须将鼻咽与原始鼻孔连接起来，以完成从鼻孔到鼻咽的气道。与口面部裂口相反，很大程度上研究了鼻腔和气道形成的缺陷，例如通过物理阻断鼻道与鼻咽之间的连接的软骨闭锁（CA）。对于鼻腔和鼻咽之间的狭窄连接也是如此，这被称为“椎管狭窄”（CS）。CA在5,000例活产中大约有1例发生，并且可以单独出现，但通常是作为综合征的一部分而出现的。尽管CA和CS通常需要立即进行干预，并在很大程度上影响受影响个体的生活质量，但CA和CS的病因和发病机制仍然难以捉摸。在这篇综述中，我着眼于形成功能性气道的鼻腔发育过程，并讨论了控制该过程的细胞行为和分子网络。另外，使用涉及CA或CS的病症的实例讨论了人类CA的病因。本文归类于：信号通路>