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Last Updated: Oct 23, 2019
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Cardiovascular Examination
A 21-year-old man presents to the Out Patient Department for a pre-employment physical examination. He is 6 ft 3 inches tall and weighs 70 kg. Cardiovascular examination is remarkable for a midsystolic click and a grade 2 systolic murmur, that increases with Valsalva maneuver. The patient has an arm span that exceeds his height and has long, slender fingers. The thumb sign (Steinberg sign) is positive.
Which of the following is the most likely diagnosis?
a. Lesch-Nyhan syndrome
b. Turner syndrome
c. Ehlers-Danlos syndrome
d. Marfan syndrome
e. Noonan syndrome