Rose P S, Levy H P, Ahn N U, Sponseller P D, Magyari T, Davis J, Francomano C A
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1852, USA.
Genet Med. 2000 Sep-Oct;2(5):278-82. doi: 10.1097/00125817-200009000-00002.
To compare the Berlin and Ghent diagnostic criteria for Marfan syndrome and evaluate the utility of screening for dural ectasia in the diagnosis of Marfan syndrome.
Review of clinical and radiographic data on 73 patients evaluated for Marfan syndrome at the National Institutes of Health.
Nineteen percent of patients diagnosed under the Berlin criteria failed to meet the Ghent standard. Dural ectasia was the second most common major diagnostic manifestation, and screening for dural ectasia established the diagnosis of Marfan syndrome in 23% of patients under the Ghent criteria.
Some patients are appropriately excluded from the diagnosis of Marfan syndrome by the Ghent criteria. Determination of dural ectasia is valuable in the diagnosis of Marfan syndrome.
比较马凡综合征的柏林诊断标准和根特诊断标准，并评估硬膜扩张筛查在马凡综合征诊断中的效用。
回顾美国国立卫生研究院对73例接受马凡综合征评估患者的临床和影像学资料。
按照柏林标准诊断的患者中有19%未达到根特标准。硬膜扩张是第二常见的主要诊断表现，根据根特标准，硬膜扩张筛查在23%的患者中确立了马凡综合征的诊断。
根特标准可将一些患者排除在马凡综合征诊断之外。硬膜扩张的判定在马凡综合征诊断中具有重要价值。
