分子诊断的卡布基综合征中的头突:流行率和临床影响
Eriko Nishi1, Noriko Miyake2,3, Rie Kawamura4
1Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
American journal of medical genetics. Part A
|October 10, 2023
概括
卡布基综合征 (KS) 是一种遗传性疾病. 头骨突 (CS) 发生在50%的KS患者中,突出显示需要监测头骨形.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 医学遗传学 医学遗传学
背景情况:
- 卡布基综合征 (KS) 是一种罕见的遗传疾病,其特点是发育迟缓,先天异常和独特的面部特征.
- 基因基因的基因包括KMT2D和KDM6A基因的突变.
- 头骨突症 (CS) 是头骨的过早融合,在KS中有事报告,但其患病率和意义尚未得到充分确立.
研究的目的:
- 为了确定基因诊断的卡布基综合征 (KS) 患者的关突症 (CS) 的患病率.
- 调查KS患者中CS的临床影响和意义.
- 评估三维计算机断层扫描 (3DCT) 在评估KS中CS中的实用性.
主要方法:
- 追溯研究分析了42名基因诊断为KS的个体的数据.
- 审查医疗记录以确定CS的发生和需要手术干预 (头骨整形).
- 对CS与性别的相关性分析,致病基因,分子后果和骨异形学.
主要成果:
- 在42名 (50%) 个被遗传诊断为卡布基综合征 (KS) 的个体中,有21人患有关节缩症 (CS).
- 十名KS和CS患者需要进行骨整形,这表明严重程度很高.
- 在3DCT和需要手术的个体中观察到状形;在某些情况下,CS在KS之前被诊断出来.
结论:
- 头骨突症 (CS) 是卡布基综合征 (KS) 的常见并发症,影响50%的患者.
- 对形的监测和CS的早期诊断对于管理KS患者至关重要.
- 对于疑似CS的KS患者,建议进行3DCT评估和数字印象.
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