Approach to hypotonia (newborn and infant) Quiz: Ace Your Exams
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A 5-year-old boy is brought to the pediatrician's office for evaluation of rapid weight gain and excessive appetite. A caregiver reports that the child had difficulty feeding at birth due to poor sucking. Developmental milestones, particularly motor skills, have been delayed compared to siblings. Pregnancy was uncomplicated. Immunizations are up to date. Family history is non-contributory. Temperature is 37° C (98.6°F), pulse is 100/min, respirations are 20/min, blood pressure is 110/70 mm Hg, and oxygen saturation is 97% on room air. Weight is at the 97th percentile for age. Physical examination reveals almond-shaped eyes, a thin upper lip, and micropenis. Cardiopulmonary and abdominal examinations are unremarkable. Which of the following studies should be obtained to confirm the most likely diagnosis?
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