A 22-year-old man has features of arm span greater than height, subluxed lenses, flattened and dilation of the aortic most likely diagnosis is?
Ans. (b) Marfan syndromeRef: Robbin's pathology 9th ed. /144* 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; ectopial entis; and aortic aneurysms are the classical triad.* Mutations in the FBN2 gene can also cause Marfan syndrome, but without aneurysms.
Ehlers-Danlos syndrome
Marfan syndrome
Werners syndrome
Laurence-Moon-Biedl syndrome
Cytogenetic Disorders