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Updated: Jun 24, 2025

Method of Studying Palatal Fusion using Static Organ Culture

Method of Studying Palatal Fusion using Static Organ Culture

Published on: September 19, 2015

罕见的先天性上唇穴

Milan Patel¹, Aishu Ramamurthi¹, Kelly Jones²

¹Department of Plastic Surgery, Medical College of Wisconsin, Milwaukee.

The Journal of craniofacial surgery

|June 11, 2024

概括

先天性唇穴,罕见的上唇异常,可以是孤立的或范德伍德综合征 (VWS) 的一部分. 手术切除是有效的,但基因评估对于怀疑VWS至关重要,即使没有其他症状.

科学领域:

整形外科整形外科整形外科
遗传学是一个遗传学.
儿科医学儿科医学

背景情况:

先天性唇穴是嘴唇的先天性形,呈现为鼻腔或.
虽然它们通常与范德伍德综合征 (VWS) 相关,但它们可以单独发生.
上侧唇孔比下侧或中侧唇孔少得多.

研究的目的:

报告儿童罕见的上侧先天性唇穴病例.
要强调在孤立的唇穴的情况下考虑范德伍德综合征的重要性.
讨论先天性唇穴的手术管理和遗传影响.

主要方法:

一个6岁女孩患有先天性唇穴的案例介绍.
使用垂直切除的唇穴的手术切除.
唇穴的病理确认. 唇穴的病理确认.

主要成果:

顺利的手术切除先天性唇穴,并有良好的愈合.
患者没有其他表型或认知异常.
转介到遗传学进一步评估潜在的范德伍德综合征.

结论:

先天性唇穴,特别是罕见的上侧变异,即使没有其他发现,也需要对范德伍德综合征进行遗传评估.
应该考虑对IRF6和GRHL3突变进行遗传测试.
建议采用组织保护性手术技术,以预防诸如口笛形变形等并发症.

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