| 释义 |
Ghent nosology Ghent nosologyFormal criteria for the diagnosis of Marfan syndrome, including cardiovascular (aortic root aneurysm), musculoskeletal (pectus excavatum), and ophthalmologic findings (ectopia lentis). Definitive diagnosis of Marfan syndrome is made by combining physical findings with detection of a point mutation in one of the fibrillin genes. |