Genetics in medicine : official journal of the American College of Medical Genetics · 2000
A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome.
Сравнительное исследованиеСтатьяResearch Support, N.I.H., IntramuralНазвание и аннотация: Перевод в очереди
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Rose P S, Levy H P, Ahn N U, Sponseller P D, Magyari T, Davis J, Francomano C A
Аннотация
PURPOSE: 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.
METHODS: Review of clinical and radiographic data on 73 patients evaluated for Marfan syndrome at the National Institutes of Health.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: Review of clinical and radiographic data on 73 patients evaluated for Marfan syndrome at the National Institutes of Health.
RESULTS: 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.
CONCLUSIONS: 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.