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

Peter S. Rose, Howard P. Levy, Nicholas U. Ahm, Paul D. Sponseller, Trish Magyari, Joie Davis, Clair A. Francomano

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)278-282
Number of pages5
JournalGenetics in Medicine
Volume2
Issue number5
DOIs
StatePublished - 2000
Externally publishedYes

Keywords

  • Berlin diagnostic criteria
  • Dural ectasia
  • Fibrillin
  • Ghent diagnostic criteria
  • Marfan syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome'. Together they form a unique fingerprint.

Cite this