Congenital defects — Flashcards

Posterior urethral valves or vesicoureteral reflux = _____

Hint: diagnostic tool

Infants born to mothers with Graves' disease can rarely develop neonatal thyrotoxicosis due to the transplacental passage of maternal _____

The initial step in the evaluation of biliary atresia is a(n) _____

_____ results in a 46 XY with: - Male internal genitalia - Ambiguous external genitalia (virilization at puberty)

Hint: Condition

↓ Cortisol, ↓ Na+ and ↑ K+ in infant is suggestive of _____

Hint: condition

_____ is a syndrome that involves Wilms tumor (nephroblastoma), aniridia, genitourinary abnormalities and mental retardation

_____ is a cyanotic congenital heart defect that presents with right ventricular impulses, a single S2 sound, and a systolic ejection murmur at the left upper sternal border

2 month hx of increasing weakness, difficulty feeding, tongue fasciculations and hypotonia = _____

4 day old baby with total bilirubin level 21 → _____

Hint: next step

Fanconi anemia = _____ Diamond Blackfan = _____

Hint: pure red cell aplasia/pancytopenia