A 6-year-old male patient presented with microcephaly, microphthalmia, absent thumb, ectopic kidney & recurrent epistaxis. The most informative diagnostic test explaining the underlying etiology is:

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Question 1 of 5

A 6-year-old male patient presented with microcephaly, microphthalmia, absent thumb, ectopic kidney & recurrent epistaxis. The most informative diagnostic test explaining the underlying etiology is:

Correct Answer: A

Rationale: Chromosomal breakage test is used in disorders like Fanconi anemia, which is associated with congenital abnormalities, bone marrow failure, and increased cancer risk.

Question 2 of 5

A 5-year-old boy develops hepatosplenomegaly and lymphadenopathy since early onset childhood with high spiking fevers and been treated with anti-inflammatory drugs. You suspect macrophage activation syndrome (MAS). The BEST test that distinguishes MAS from a flare of the primary disease is

Correct Answer: D

Rationale: Hemophagocytosis in the bone marrow is the hallmark of MAS.

Question 3 of 5

IgE antibodies against Malassezia furfur have been found in patients with atopic dermatitis of

Correct Answer: A

Rationale: Malassezia furfur is often associated with head and neck dermatitis in atopic patients.

Question 4 of 5

Mid diastolic rumble murmur at the lower left sternal border may be heard in the following structural heart disease:

Correct Answer: A

Rationale: Mitral valve stenosis causes a mid-diastolic rumbling murmur due to turbulent blood flow across the narrowed mitral valve. It is best heard at the apex and sometimes radiates to the left sternal border.

Question 5 of 5

Which of the following is an early manifestation of hypoxemia in young infants?

Correct Answer: D

Rationale: Irritability is an early sign of hypoxia in infants, as oxygen deprivation initially affects neurological function before progressing to more severe signs like cyanosis.

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