Approach to aneuploidies and microdeletions Quiz: Ace Your Exams
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A 3-year-old girl presents to clinic for evaluation of progressive abdominal swelling for eight months. The parents note the swelling seems more noticeable on the left side of the abdomen. The parents report associated fever and night sweats. The pregnancy, birth history, and family history are unremarkable. Medical history is notable for delayed developmental milestones. There is no history of difficulty breathing or changes in bowel habits. Temperature is 37°C (98.6°F), pulse is 85/min, respirations are 21/min, blood pressure is 100/57 mmHg, and oxygen saturation is 98% on room air. Abdominal examination reveals asymmetrical distention, with a non-tender, fixed mass overlying the left hypochondriac region extending to the midline. Ophthalmic examination reveals a partially absent iris bilaterally. Which of the following is the most likely diagnosis?
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