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Pediatrics 6

A 7-year-old girl presents to the emergency department with her parents immediately after having a seizure at home. Her past medical history is significant for short stature and unspecified cognitive impairment. She is otherwise healthy and has not had any recent illnesses. Physical examination is significant for a round face and contraction of her facial muscles when the angle of her jaw is tapped. Electrocardiogram shows a long QT interval, and initial laboratory tests are significant for low calcium, normal vitamin D, normal chloride, and elevated parathyroid hormone (PTH).

Which of the following additional features is likely to be present in this individual?

  • A) Absent thymic shadow on chest x-ray
  • B) Bowing of the lower extremities
  • C) Elevated lipase
  • D) Shortened metacarpals
  • E) Urine pH > 5.5

Authors

Alexandra Conway

Editor

Dr. Ted O'Connell

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