The differential diagnosis of children with joint hypermobility: a review of the literature

Table 1 Ghent Diagnostic Criteria for Marfan Syndrome – Ho[10].

System	Major criteria	Minor criteria
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)
Ocular System	Ectopia lentis	Abnormally flat corneas Increased axial length of globe Hypoplastic iris or cillary muscles causing decreased miosis
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
Pulmonary system	None	Spontaneous pneumothorax Apical blebs (shown on chest radiograph)
Skin and integument	Lumbosacral dura ectasia by CT or MRI	Stretch marks Recurrent or incisional herniae
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.

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.

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