An infant appears with periorbital fullness, full cheeks, long philtrum, anteverted nares, broad nasal bridge, and an open mouth. Physical examination reveals an absence of heart murmur. Laboratory findings reveal normal CBC, normal electrolytes, and high serum ionized calcium. Most likely diagnosis is:

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Question 1 of 5

An infant appears with periorbital fullness, full cheeks, long philtrum, anteverted nares, broad nasal bridge, and an open mouth. Physical examination reveals an absence of heart murmur. Laboratory findings reveal normal CBC, normal electrolytes, and high serum ionized calcium. Most likely diagnosis is:

Correct Answer: C

Rationale: Williams syndrome matches the facial features and transient hypercalcemia, with no murmur if cardiac defects are absent (NIH). A-D don’t fit.

Question 2 of 5

A child with a history of cystic fibrosis suddenly develops massive hemoptysis. The next step in management is:

Correct Answer: B

Rationale: Bronchial artery embolization is the urgent treatment for massive hemoptysis in cystic fibrosis, per CFF. A, C-E don’t address bleeding.

Question 3 of 5

Most common cause of death in patients with cystic fibrosis is:

Correct Answer: B

Rationale: Respiratory failure is the leading cause of death in cystic fibrosis, from chronic lung damage, per CFF. A, C-E are less common.

Question 4 of 5

A newborn appears with respiratory distress and cyanosis. Chest x-ray reveals dextrocardia and a boot-shaped heart. Most likely diagnosis is:

Correct Answer: A

Rationale: Tetralogy of Fallot fits dextrocardia and a boot-shaped heart, per AAP. B-E don’t match x-ray findings.

Question 5 of 5

A 7-year-old girl presents with polyuria and polydipsia. Blood glucose is 300 mg/dL, and urine shows ketones. Most likely diagnosis is:

Correct Answer: B

Rationale: Type 1 diabetes is common in children with hyperglycemia and ketonuria, per ADA. A, C-E don’t fit the profile.

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