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Beckwith-Wiedemann syndrome

Summary of Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome is an overgrowth disorder characterized by an increased risk of childhood cancer. Patients with Beckwith-Wiedemann often present with Wilms tumor, macroglossia, organomegaly, and hemihypertrophy. The treatment medical treatment of choice includes octreotide and blood glucose maintenance. Surgical treatment may include nephrectomy or macroglossia reduction.

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Renal system

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Renal and ureteral disorders
Bladder and urethral disorders
Renal system pathology review

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Beckwith-Wiedemann syndrome

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Beckwith-Wiedemann syndrome

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USMLE® Step 1 style questions USMLE

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A 1-day newborn male infant is admitted into neonatal intensive care unit because of severe developmental anomalies. The baby was prematurely born to a gravida 1, para 0, mother via cesarean section following a pregnancy complicated by polyhydramnios. Upon further interrogation with the mother, she denies any hereditary disorders in the family. A physical exam shows an abdominal wall defect in which the intestines and liver are exposed (enclosed in visceral peritoneum) and an unusually large tongue.  An abdominal ultrasound shows hydronephrosis and a hyperechoic left-kidney mass.  His temperature is 36.7°C (98°F), pulse is 130/min, respirations are 30/min, blood pressure is 110/70 mmHg, weight is 5 kilograms (11 lb), and pulse oximetry on room air shows an oxygen saturation of 93%. Which of the following is the most likely diagnosis?

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