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Old 07-27-2014
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Default A 14-year-old girl with a recent growth spurt

A 14-year-old girl is brought to the physician because of a recent growth spurt of 15 cm (6 in) during the past year. She also has had increasing fatigue and palpitations during this period. Her paternal aunt has a history of palpitations and severe myopia. She is at the 95th percentile for height and 50th percentile for weight. Physical examination shows a long, thin face. Ophthalmologic examination shows dislocated lenses. Cardiac examination shows a hyperdynamic precordium with early click and systolic murmur. Echocardiography shows an enlarged aortic root and mitral valve prolapse. Abnormal synthesis of which of the following proteins is the most likely cause of this patient's disorder?

(A) Collagen, type I
(B) Elastin
(C) Fibrillin-1
(D) Fibroblast growth factor R3
(E) Laminin
(F) Neurofibromin
(G) PAX 6
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Old 07-27-2014
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fibrillin-1-marfan's syndrome
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Old 07-27-2014
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Fibrillin-1
Marfans
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