Marfan's syndrome is associated with which of the following features?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Marfan's syndrome is a genetic disorder caused by a mutation in the FBN1 gene, which encodes the connective protein fibrillin-1. This results in a variety of features characteristic of the syndrome, particularly affecting the skeletal, ocular, and cardiovascular systems.

The correct answer highlights the presence of arachnodactyly, which refers to long, slender fingers and toes, a hallmark of Marfan's syndrome. In addition, hyperflexible joints are commonly observed in individuals with this condition due to connective tissue abnormalities. These features reflect the connective tissue dysplasia that characterizes Marfan's syndrome, leading to a tall stature and a distinctive body habitus.

In contrast, while some options mention features relevant to connective tissue disorders, they do not specifically or accurately describe the primary features associated with Marfan's syndrome. Arachnoid cysts and lens dislocation are more associated with other connective tissue disorders, such as Ehlers-Danlos syndrome. Short stature and aortic stenosis are not typical findings in Marfan's syndrome; patients are generally tall with long limbs, and they may experience aortic regurgitation instead due to valve incompetence rather than aortic stenosis. The combination of long extremities and aortic

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