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?
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
Ehlers-Danlos syndrome
Werner's syndrome
Laurence-Moon-Biedl syndrome
Marfan syndrome