布劳综合征与持续的胎儿血管系统:一个病例报告
Miao Liu1, Yong Zeng2, Jie Zhong3
1School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Journal of medical case reports
|June 29, 2023
概括
布劳综合征 (BS) 是一种罕见的遗传性疾病,由于眼睛的并发症可能导致严重的视力丧失. 早期发现和治疗眼部干扰,包括持续的胎儿血管,对于保护受影响儿童的视力至关重要.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 布劳综合征 (BS) 是一种罕见的自体主导遗传疾病,由NOD2基因突变引起.
- 它表现为粒状皮肤炎,关节炎和脑膜炎,如果不治疗,可能导致失明.
- 眼部干扰的早期诊断对于预后至关重要.
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