Approach to a child with Down syndrome (trisomy 21) Quiz: Ace Your Exams
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A 2-year-old boy with Down syndrome is brought to the clinic for a well child visit. His parents report frequent diarrhea and bloating for one month. Symptoms worsen when the patient eats white bread and wheat products. He has no history of choking, problems sleeping, constipation, neck pain, or neurological symptoms. He has no significant past medical history. Growth charts show weight dropped from 25th percentile to 10th percentile since the last visit. Height is at the 20th percentile and head circumference is at the 25th percentile. Temperature is 37C (98.6F), pulse is 110/min, respirations are 25/min, blood pressure is 96/53 mmHg, and oxygen saturation is 99% on room air. On physical exam, the abdomen is soft, slightly distended, and non-tender. Cardiopulmonary and neurological examinations are unremarkable. There is a vesicular rash with excoriations on the back and the buttocks. Which of the following tests should be performed next to confirm the diagnosis?
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