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相关概念视频

Pleiotropy01:33

Pleiotropy

40.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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相关实验视频

Updated: Jun 24, 2025

Method of Studying Palatal Fusion using Static Organ Culture
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Method of Studying Palatal Fusion using Static Organ Culture

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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
PubMed
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:

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  • 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.