非综合征型先天性小耳畸形的病因研究进展
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湖南省儿童医院

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湖南省出生缺陷协同防治科技重大专项,2019SK1015,先天性颜面部及消化道畸形一体化防治研究


Research progress on etiology of nonsyndromic congenital microtia
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湖南省儿童医院

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    摘要:

    非综合征小耳畸形主要表现为外中耳畸形,通常不合并其它部位的畸形,大多数病例为散发。有学者认为非综合征型小耳畸形是我国第二大颅面部先天性畸形。可能是半侧颜面短小畸形中临床表现较轻微的一种类型。半侧颜面短小畸形由为第一、二鳃弓发育不全。尽管有大量文献报道有非综合征型小耳畸形有家族聚集性并有部分基因的变异。但是也并不能解释大部分非综合征型小耳畸形的表型,目前,非综合征型小耳畸形的发病机制仍然是具有遗传易感性的个体,在特定的环境中形成。有文献报道维甲酸、沙利度胺、霉酚酸酯及免疫抑制药物可导致非综合征小耳畸形,其机制可能与神经嵴细胞迁移紊乱和局部血管破裂有关。所以,本文将介绍目前解释非综合征型小耳畸形的神经嵴细胞假说和血管破裂假说。

    Abstract:

    Non-syndromic microtia is mainly manifested as external and middle ear deformity, usually not associated with other parts of the deformity, most cases are sporadic.Some scholars believe that non-syndromic microtia is the second largest craniofacial congenital deformity in China.It may be one of the milder clinical manifestations of hemifacial microsomia.Hemifacial microsomia was caused by hypoplasia of the first and second branchial arches.Although there has been a lot of literature on non-syndromic microtia with familial aggregation and partial genetic variation.However, this does not explain most of the phenotypes of non-syndromic microtia, which is still developed by individuals with genetic predisposition in specific environments.It has been reported that retinoic acid, thalidomide, mycopherlate and immunosuppressive drugs can cause microtia without syndrome. The mechanism may be related to the disturbance of neural crest cell migration and local vascular rupture.Therefore, we will introduce the neural crest cell hypothesis and vascular rupture hypothesis to explain the non-syndromic microtia.

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  • 收稿日期:2021-09-19
  • 最后修改日期:2021-11-06
  • 录用日期:2021-11-17
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