A comparison of the Berlin and Ghent nosologies and the influence of duralectasia in the diagnosis of Marfan syndrome

Citation
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
Citations number
18
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETICS IN MEDICINE
ISSN journal
10983600 → ACNP
Volume
2
Issue
5
Year of publication
2000
Pages
278 - 282
Database
ISI
SICI code
1098-3600(200009/10)2:5<278:ACOTBA>2.0.ZU;2-A
Abstract
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.