舌头裂的面微观症:来自三个罕见病例的胚胎机制和临床影响
Zhifeng Li1, Xiaojun Tang2, Xiaolei Jin2
1Department of Comprehensive Surgery, Plastic Surgery Hospital.
The Journal of craniofacial surgery
|September 24, 2025
概括
面显微症与舌头裂是罕见的. 这项研究详细介绍了3个病例,表明神经细胞迁移和信号通路的破坏是原因,为胚胎发生和治疗提供了洞察力.
科学领域:
- 发育生物学是发展生物学.
- 头骨脸部异常情况
- 遗传学 是一个遗传学.
背景情况:
- 带有先天性舌裂的面显微症 (CFM) 异常罕见,全球报告少于10.
- 这项研究检查了3个非综合征性CFM病例,其中包括中线舌裂,下下,耳朵形,软组织缺陷和神经功能障碍.
研究的目的:
- 为了呈现罕见的CFM病例与舌头裂.
- 探索胚胎病理机制和潜在的遗传贡献者.
- 为了突出舌裂在面形发生的诊断意义.
主要方法:
- 3名非综合征性CFM患者的病例系列呈现.
- 对面结构和神经功能进行临床评估.
- 对胚胎学原理和涉及面发育的遗传因素的审查.
主要成果:
- 所有3个病例都呈现出CFM特征和中线舌头裂,但在功能上是良性的.
- 部分心骨质生成和耳部重建改善了面部对称性和功能.
- 喉弧衍生物的共同参与表明脑神经细胞 (cNCC) 迁移和信号通路失调 (SHH,BMP,FGF) 被破坏.
结论:
- 舌裂是潜在的面形变异发生的重要指标.
- 破坏的cNCC迁移和信号通路与舌裂性CFM有关.
- 这些发现提供了临床见解,并为未来的研究提出了潜在的遗传联系 (FLNA,Meis2).
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