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Ghent nosology of Marfan's syndrome

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The Ghent nosology, defining the major criteria, is described.For diagnosis of Marfan's syndrome, major findings are required in two out of the three main systems affected (heart; eyes; skeleton) as well as involvement of a third organ system. Very few patients match up to these strict criteria.

Skeletal system (four or more of)

  • Pectus carinatum
  • Pectus excavatum
  • Span to height >1.05
  • Wrist and thumb signs
  • Scoliosis >20°
  • Elbow extension <170°
  • Pes planus
  • Protrusio acetabulae

Dura

  • Lumbosacral dural ectasia by CT or MRI

Ocular system

  • Ectopia lentis

Cardiovascular system

  • Dilatation of ascending aorta involving at least sinuses of Valsalva
  • Dissection of ascending aorta
  • Family/genetic history
  • First degree relative with Marfan's syndrome
  • Presence of FBN-1 mutation

For index case: Diagnosis requires major criteria in at least two different organ systems and involvement of a third organ system

For a relative of an index case: Major criterion in one organ system and involvement of a second organ system

Reference:

  1. ARC (February 2005). Topical Reviews - Heritable Collagen Disorders.

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