Free Board Review Questions of the Week – Pediatric Gene Syndromes

Adam WandermanPediatric Medicine Question of the Week, Personal Education, Question of the Week

Free board review questions of the week on pediatric gene syndromes

Free pediatric gene syndromes board review questions sample from Med-Challenger.

Med-Challenger offers pediatric gene syndromes review along with everything else for diagnosing and treating pediatric genetics and dysmorphology disorders with in-depth review questions with detailed explanations. More free genetics and dysmorphology review questions can be accessed via this week’s Quick Quiz, and via free trial of the following specialty courses:

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This week’s case-based question:


A nurse on your staff alerts you to a glucose level of 20 mg/dL in a newborn. The pregnancy was uncomplicated and the newborn’s mother does not have diabetes.

On physical examination, the newborn’s vitals are: blood pressure 86/45 mm Hg, heart rate 140 beats/minute, respiratory rate 25 breaths/minute, and temperature 37.0 °C.

The newborn is large for his gestational age. Head, eyes, ears, nose, and throat examination reveals a large tongue. Heart and lung examination findings are normal. The child has a sac-covered mass protruding from the abdomen.

What is the most likely diagnosis?

Answer Options

Beckwith-Wiedemann syndrome
trisomy 13
trisomy 18
trisomy 21

And the answer is …


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