A very tall, slender 16-year-old boy is referred for evaluation of an abnormal CXR. He reports no pulmonary or cardiac symptoms, and feels well. On physical examination, he has long fingers, pectus excavatum, and a high arched palate. Which of the following is most likely to be seen on his CXR?
Correct Answer: aortic dilatation
Description: In Marfan syndrome, inheritance is autosomal dominant, and the aortic lesion is a cystic medial necrosis with loss of elastic tissue, resulting in aneurysm formation. Pneumothorax can occur but is not as characteristic. Mitral valve prolapse can also be part of the syndrome. Dislocation of the lens is the most apparent eye abnormality. Severe chest deformities and long limbs are characteristic. High, arched palate; high pedal arches; and pes planus are common.
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