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Ghent Diagnostic Criteria for Marfan Syndrome – Ho[10]. |
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| System |
Major criteria |
Minor criteria |
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| Skeletal system |
Pectus carinatum Pectus excavatum requiring surgery Reduced upper to lower segment ratio or arm span to height ratio >1.05 Positive wrist and thumb signs Scoliosis of >20° or spondylolisthesis Reduced extension of the elbows (<170°) Medial displacement of the medial malleolus causing pes planus |
Pectus excavatum of moderate severity Joint hypermobility High arched palate with dental crowding Facial appearance (dolichocephaly, malar hypoplasia, enophalmous, retrognathia, and down slanting palpebral fissures) |
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| Ocular System |
Ectopia lentis |
Abnormally flat corneas Increased axial length of globe Hypoplastic iris or cillary muscles causing decreased miosis |
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| Cardiovascular system |
Dilation of the ascending aorta with or without aortic regurgitation and involving the sinuses of valsalva Dissection of the ascending aorta |
Mitral valve prolapse with or without mitral valve regurgitation Dilatation of the main pulmonary artery |
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| Pulmonary system |
None |
Spontaneous pneumothorax Apical blebs (shown on chest radiograph) |
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| Skin and integument |
Lumbosacral dura ectasia by CT or MRI |
Stretch marks Recurrent or incisional herniae |
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| Family history |
Having a parent, child or sibling with either: -presence of a mutation in FBN1known to cause Marfans syndrome or -presence of a haplotype around FBN1, inherited by descent, known to be associated with Marfan syndrome in the family. |
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For the proband the diagnosis requires the presence of major criteria in at least two organ systems and involvement of a third organ system. For a family member, diagnosis requires the presence of one major criterion in family history and one major criterion in an organ system and involvement of a second organ system. | ||
Tofts et al. Pediatric Rheumatology 2009 7:1 doi:10.1186/1546-0096-7-1 |
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