Which of the following is criteria is diagnostic of Marfan syndrome?

Question

Quizplus · Accepted Answer

Marfan syndrome in patients with a family history is diagnosed with by any one of the following criteria:
• Ectopia lentis
• Systemic score ≥7 points*
• Aortic criterion (aortic diameter Z ≥2 above 20 years old, Z ≥3 below 20 years, or aortic root dissection)
*Systemic score criteria: A systemic score ≥7 indicates major systemic involvement.
• Wrist AND thumb sign: 3 points (wrist OR thumb sign: 1 point)
• Pectus carinatum deformity: 2 (pectus excavatum or chest asymmetry: 1 point)
• Hindfoot deformity: 2 points (plain pes planus:1 point)
• Pneumothorax: 2 points
• Dural ectasia: 2 points
• Protrusio acetabuli: 2 points
• Reduced upper segment/lower segment ratio AND increased arm span/height AND no severe scoliosis: 1 point
• Scoliosis or thoracolumbar kyphosis: 1 point
• Reduced elbow extension (≤170 degrees with full extension): 1 point
• Facial features (at least three of the following five features: dolichocephaly [reduced cephalic index or head width/length ratio], enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia): 1 point.
• Skin striae: 1 point
• Myopia >3 diopters: 1 point
• Mitral valve prolapse (all types): 1 point
Marfan syndrome diagnosis in a patient without family history includes the following criteria:
• Aortic criterion (aortic diameter Z ≥2 or aortic root dissection) and ectopia lentis
• Aortic criterion (aortic diameter Z ≥2 or aortic root dissection) and a causal FBN1 mutation as defined above
• Aortic criterion (aortic diameter Z ≥2 or aortic root dissection) and a systemic score ≥7
• Ectopia lentis and a causal FBN1 mutation as defined above that has been identified in an individual with aortic aneurysm

Which of the Following Is Criteria Is Diagnostic of Marfan