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2476 Pediatrics

Physical examination of an infant delivered to a 42 year old, gravida 3, para 2, woman, is remarkable for slight hypotonia and a poor Moro reflex. Fuher examination reveals upslanting palpebral fissures, epicanthal folds, excess nuchal skin, an enlarged tongue, clinodactyly of the fifth fingers, and a single transverse palmar crease. Which of the following is the most likely diagnosis?

ADown syndrome
BEdwards syndrome
CFetal alcohol syndrome
DMarfan syndrome
Pediatrics
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2479 Pediatrics

A child has a 2-week history of spiking fevers, which have been as high as 40degC (104degF). She has spindle-shaped swelling of finger joints and complains of upper sternal pain. When she has fever, the parents note a faint salmon-colored rash that resolves with the resolution of the fever. She has had no conjunctivitis or mucositis, but her heart sounds are muffled and she has increased pulsus paradoxus. Which of the following is the most likely diagnosis?

ARheumatic fever
BJuvenile idiopathic arthritis
CToxic synovitis
DSeptic arthritis
Pediatrics
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2482 Pediatrics

True about Wilson’s disease

AIncrease in urinary copper and increased serum ceruloplasmin and copper
BIncreased serum ceruloplasmin levels with increased urinary copper
CElevated hepatic copper level and increased serum ceruloplasmin levels
DIncreased in urinary copper and decreased serum ceruloplasmin
Pediatrics
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