与ZIC1基因突变相关的单边头骨突触:一个病例报告
Fahad K Alsharef1, Khulood K Alraddadi2, Tariq Aljared1,2
1College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Sheikh Jaber Al-Sabah Road, Khashm Al An District, PO Box 3660, Riyadh 11481, Riyadh Province, Saudi Arabia.
Journal of surgical case reports
|January 12, 2026
概括
一种罕见的小脑1 (ZIC1) 基因突变的指蛋白在婴儿中引起单边冠状突变. 早期手术干预改善了美容结果和发育进展,强调了基因检测的重要性.
科学领域:
- 遗传学 遗传学 是一个
- 儿科手术 儿科手术
- 神经发育障碍 神经发育障碍
背景情况:
- 头骨突是一个常见的头骨面部异常,由于过早的合.
- 遗传因素,包括单一基因突变,在很大一部分病例的基础上.
- 单侧冠状突经常与遗传变异有关,ZIC1突变是最近发现的罕见原因.
研究的目的:
- 报告由ZIC1突变引起的单边冠状突变病例.
- 描述临床表现,手术管理和结果.
- 为了强调ZIC1突变在不明原因的冠状突中的重要性.
主要方法:
- 一个11个月大的女婴的案例报告.
- 临床评估,包括诊断单边左冠状骨同位症,小头症和并发症.
- 手术干预:前脑扩张与前额外轨道推进.
- 手术后的随访,评估化品的改善和发育进展.
主要成果:
- 这位患者出现了单边左冠状腺突,小头症和多种并发症.
- 手术纠正导致了立即的美容改善.
- 手术后的过程是无事件的,在随访期间观察到的发育进展.
结论:
- 这种病例代表了一种不常见的ZIC1相关的关节突变.
- 早期的手术干预可以产生积极的美容和发育结果.
- 在无法解释的单边冠状结合症病例中,应考虑对ZIC1突变进行基因测试,以指导管理和咨询.
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