与面部形相结合的双边道形
Xingchen Liu1, Yuan Wang1,2, Zheng Jiang1
1Department of Otorhinolaryngology Head and Neck Surgery.
The Journal of craniofacial surgery
|August 1, 2025
概括
本案例研究介绍了一名18岁的男性,患有罕见的双侧门缩和相关的先天性异常. 手术干预消除了症状,遗传检测没有发现异常,这表明可能涉及产前因素.
科学领域:
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 医学遗传学 医学遗传学
- 儿科手术 儿科手术
背景情况:
- 双边门缩是一种罕见的先天性疾病,如果不治疗,可能导致致命的窒息.
- 先天性病例通常与基因突变有关,但次要原因包括创伤和医疗治疗.
- 这种情况很少在成年人中报告,这突显了成年人发病或未被诊断的先天性病例的罕见性.
研究的目的:
- 在18岁的男性中报告一种罕见的双边后面门缩症.
- 记录这种复杂的表现的诊断和治疗过程.
- 通过全基因组测序来调查该疾病的潜在遗传基础.
主要方法:
- 一个18岁男性的综合病例报告,患有双边后门缩和多种先天异常.
- 对于门缩的手术干预.
- 患者及其父母的全基因组测序.
主要成果:
- 顺利的手术解决了门缩症症状.
- 全基因组测序显示没有可识别的遗传异常.
- 该患者在手术后三个月表现出积极的预后.
结论:
- 成年人的先天双侧门形形异常罕见.
- 遗传突变的缺失表明潜在的环境或产前影响,可能是孕妇在怀孕期间的自我治疗.
- 早期诊断和手术管理对于门缩症的良好结果至关重要.
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