A tall, thin 20-year-old male patient presents with physical exam findings of arachnodactyly, pectus excavatum, genu valgus, and inferior lens subluxation. What substance is likely to be discovered in the urine?

Question

Quizplus · Accepted Answer

The physical exam findings described are classic features of Marfan syndrome, which is caused by a mutation in the FBN1 gene that codes for fibrillin-1. This gene mutation results in abnormal connective tissue throughout the body, including the aorta, heart valves, and skeletal system. Homocystine is often elevated in the urine of patients with Marfan syndrome due to abnormal metabolism of methionine.

A Tall, Thin 20-Year-Old Male Patient Presents with Physical Exam