"一个独特的分支--谱障碍病例"
Digvijay Singh1, Sritama De2, Navdeep Singh3
1Present Address: Shri Balaji Institute of Medical Science, Dubey Colony, Mowa, Raipur, Chhattisgarh India 492014.
概括
本病例报告详细介绍了一种罕见的分支--频谱障碍 (BORSD) 变异,该变异发生在一名17岁的男性身上,该男性患有de novo突变. 患者呈现出独特的先天性异常,突出显示了疾病的多样化表现.
科学领域:
- 遗传学 是一个遗传学.
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 儿科医学 儿科医学
背景情况:
- 支--谱障碍 (BORSD) 是一种遗传疾病,其特征是支弧,耳朵和脏的异常.
- 它经常呈现出广泛的临床特征,使得诊断具有挑战性.
- 越来越多的新突变被认为是BORSD的原因.
研究的目的:
- 报告印度一名年轻男性患者的独特而罕见的BORSD病例.
- 为了突出展示BORSD的呈现,具有新的突变.
- 为了解BORSD变种及其遗传基础做出贡献.
主要方法:
- 临床病例介绍和详细的病史.
- 身体检查侧重于先天性异常.
- 对类似病例的相关医学文献的审查.
主要成果:
- 一名17岁的男性出现了双侧耳前鼻,右侧第二支臂裂鼻和双侧听力缺陷.
- 这位患者有先天性白内障手术和乳囊鼻术的病史.
- 基因分析表明,新突变与BORSD.相符.
结论:
- 这种病例代表了一种罕见的BORSD变异,具有新的突变.
- 这些发现强调了认识到BORSD的不同临床表现的重要性.
- 这份报告为印度次大陆BORSD的文献增加了宝贵的数据.
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