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What is A 22-year-old man has features of arm span greater than height, subluxated lenses, flattened and dilation of the aortic most likely diagnosis is? and explain in detail?
The presentation in the question is of a patient with Marfan syndrome.
• Marfan syndrome is caused by a mutation in a single allele of the fibrillin gene (FBN1).
• The gene product is a major component of elastin-associated microfibrils. Long, thin extremities; ectopia lentis, and aortic aneurysms are the classical triad.
• Mutations in the FBN2 gene can also cause Marfan syndrome, but without aneurysms