Ps. Rose et al., A comparison of the Berlin and Ghent nosologies and the influence of duralectasia in the diagnosis of Marfan syndrome, GENET MED, 2(5), 2000, pp. 278-282
Purpose: To compare the Berlin and Ghent diagnostic criteria for Marfan syn
drome and evaluate the utility of screening for dural ectasia in the diagno
sis of Marfan syndrome. Methods: Review of clinical and radiographic data o
n 73 patients evaluated for Marfan syndrome at the National Institutes of H
ealth. Results: Nineteen percent of patients diagnosed under the Berlin cri
teria failed to meet the Ghent standard. Dural ectasia was the second most
common major diagnostic manifestation, and screening for dural ectasia esta
blished the diagnosis of Marfan syndrome in 23% of patients under the Ghent
criteria. Conclusions: Some patients are appropriately excluded from the d
iagnosis of Marfan syndrome by the Ghent criteria. Determination of dural e
ctasia is valuable in the diagnosis of Marfan syndrome.