不完整的分区类型II及其各种表现:孤立,与EVA相关,综合征性,以及其他方面;一个多中心的国际研究
Felice D'Arco1, Sedat G Kandemirli2, Hisham M Dahmoush3
1Department of Radiology, Great Ormond Street Hospital for Children, London, UK.
Neuroradiology
|June 4, 2024
概括
不完整的分区类型II (IP-II) 与扩大的前置水道 (EVA) 经常与Pendred综合征有关. 然而,许多IP-II病例,特别是孤立的形式,具有未知的遗传原因.
科学领域:
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 遗传学 遗传学 是一个
- 放射学 放射学是一门学科.
背景情况:
- 不完全分割型II (IP-II) 是一个尾膜的形.
- 它可以随着或没有扩大的前置水道 (EVA) 发生.
- 一部分IP-II和EVA患者患有Pendred综合征.
研究的目的:
- 在一个队列中确定孤立的IP-II,带有EVA的IP-II和综合症的IP-II的流行率.
- 在研究群体中调查IP-II的遗传基础.
主要方法:
- 分析了来自446名患者的892个骨的多中心数据库.
- 详细检查具有IP-II.II成像特征的病例.
- 对综合征关联的遗传分析.
主要成果:
- 确定了78名IP-II患者.
- 55人患有双边IP-II和EVA;14/29人 (48%) 患有SLC26A4突变 (Pendred综合征).
- 8人患有双边IP-II与正常VA;13人患有单边IP-II.
结论:
- 双边IP-II与EVA可能与Pendred综合征 (SLC26A4 / FOXI1突变) 相关.
- 该队列中的大多数IP-II病例缺乏已识别的遗传异常,这表明存在未知的遗传因素.
- 双边隔离的IP-II很可能是遗传的,尽管常常原因不明.
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