Table 1 Major Modified Ghent criteria for Marfan syndrome
System | Major features | Minor features | Requirement |
|---|---|---|---|
Skeletal | Pectus carinatum Pectus excavatum needing surgery Arm span to height ratio >1.05 Wrist (Walker) and thumb (Steinberg) signs Scoliosis >20° or spondylolisthesis Reduced elbow extension <170° Pes planus Protrusio acetabuli | Pectus excavatum Thoracic lordosis Scoliosis <20° Joint hypermobility Highly arched palate Dental crowding Typical facies (dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, downward slanting palpebral fissures) | 2 major features; Or, 1 major and 2 minor features |
Ocular | Ectopia lentis | Flat cornea Axial length >23.5 mm Hypoplastic iris or ciliary muscle causing reduced miosis Nuclear sclerosis under the age of 50 Glaucoma under the age of 50 Retinal detachment | Major feature; Or, 2 minor features |
Cardiovascular | Dilatation of the ascending aorta involving the sinuses of Valsalva Dissection of the ascending aorta | Mitral valve prolapse Dilatation of the main pulmonary artery under the age of 40 Calcification of the mitral annulus under the age of 40 Dilatation or dissection of the thoracic or abdominal aorta under the age of 50 | 1 minor feature |
Pulmonary | None | Spontaneous pneumothorax Apical blebs | 1 minor feature |
Skin | None | Striae atrophicae Recurrent or incisional hernia | 1 minor feature |
Dura | Dural ectasia - enlargement of the dural sac in the lumbosacral region (CT or MRI) | Â | Major feature |