Table 2

Gent nosology describing typical clinical and imaging features of patients with Marfan syndrome

Skeletal system
Major criteria (presence of at least 4 of the following manifestations)
 • pectus carinatum
 • pectus excavatum requiring surgery
 •  reduced upper to lower segment ratio or arm span to height ratio greater than 1.05
• wrist and thumb signs
 • scoliosis of greater than 20° or spondylolisthesis
 • reduced extension at the elbows (< 170°)
 •  medial displacement of the medial malleolus causing pes planus
•  protrusio acetabulae of any degree (ascertained on radiographs)
Minor criteria
 • pectus excavatum of moderate severity
 • joint hypermobility
 • highly arched palate with crowding of teeth
 •  facial appearance (dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, down slanting palpebral fissures)
Ocular system
Major criteria
 • Ectopia lentis
Minor criteria
 • Abnormally flat cornea (as measured by keratometry)
 •  Increased axial length of globe (as measured by ultrasound)
•  Hypoplastic iris or hypoplastic ciliary muscle causing decreased miosis
Cardiovascular system
Major criteria
 •  dilatation of the ascending aorta with or without aortic regurgitation and involving at least the sinuses of Valsalva or
•  dissection of the ascending aorta
Minor criteria
 •  mitral valve prolapse with or without mitral valve regurgitation
•  dilatation of the main pulmonary artery, in the absence of valvar or peripheral pulmonic stenosis or any other obvious cause, below the age of 40 years
•  calcification of the mitral annulus below the age of 40 years or
•  dilatation or dissection of the descending thoracic or abdominal aorta below the age of 50 years
Pulmonary system
Major criteria
 • none
Minor criteria
 • spontaneous pneumothorax or
 • apical blebs (ascertained by chest radiography)
Skin and integument
Major criteria
 • none
Minor criteria
 •  striae atrophicae (stretch marks) not associated with major weight changes, pregnancy or repetitive stress, or
• recurrent or incisional herniae
Major criteria
 • lumbosacral dural ectasia by CT or MRI
Minor criteria
 • none
Family/genetic history
Major criteria
 •  having a parent, child or sibling who meets these diagnostic criteria independently
•  presence of a mutation in FBN1known to cause the Marfan syndrome or
•  presence of a haplotype around FBN1, inherited by descent, known to be associated with unequivocally diagnosed Marfan syndrome in the family
Minor criteria
 •  none