在五名患有血管埃勒斯-丹洛斯综合征的无血缘儿童中发现了血管发现:多例病例报告
Anna Irene Skei Sekkelsten1, Thor Håkon Skattør2, Henrik Holmstrøm3
1Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
血管埃勒斯-丹洛斯综合征 (vEDS) 可以导致严重的儿童血管事件,尽管表现不同. 需要进行更多的研究,以制定儿科患者的监测指南,并为基因测试决策提供信息.
科学领域:
- 遗传学 是一个遗传学.
- 心血管医学 心血管医学
- 儿科 儿科 儿科
背景情况:
- 血管埃勒斯-丹洛斯综合征 (vEDS) 是一种由 COL3A1 变体引起的遗传性结缔组织疾病,导致血管脆弱.
- 虽然通常在成年期表现出来,但血管事件也可能在儿童时期发生,关于儿科临床特征和监测益处的数据有限.
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