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MMLU / A 5-year-old girl is brought to the physician by her parents for evaluation of…

Problem

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question

A 5-year-old girl is brought to the physician by her parents for evaluation of recurrent injuries. Her parents say that she started walking at the age of 14 months and since then has always seemed clumsier and had more injuries than other children. She has had increasingly frequent chest pain with exertion since starting a soccer program 3 months ago. She usually has pain or swelling of her knees or ankles after practice. She has been wearing glasses for 2 years. Her 16-year-old brother has required two operations for a severe rotator cuff injury he sustained while taking a shower, and she has a maternal cousin who died of a ruptured aortic aneurysm at the age of 26 years. Today, the patient walks with a limp. She is at the 99th percentile for height and 50th percentile for weight. A midsystolic click is heard at the apex. The left ankle is swollen and tender; range of motion is limited by pain. The joints of the upper and lower extremities are hypermobile, including 25 degrees of genu recurvatum, thumbs that may be extended to touch the forearms, and flexibility at the waist, with palms easily touching the floor with straight knees. Which of the following is the most appropriate next step in diagnosis?

choices

  1. Skeletal survey
  2. Echocardiography
  3. Bone scan
  4. MRI of the shoulder

subject

professional_medicine

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