Congenital defects — Flashcards

Which immunodeficiency is characterized by no B-cell maturation? _____

Nasal polyps are associated with _____ in children

What ocular finding is classically seen in Tay-Sachs disease?_____

Which lysosomal storage disease presents with corneal clouding? _____

_____ may be administered to patients with D-transposition of great vessels to maintain a PDA until definitive surgical repair is performed

Neonatal _____ syndrome occurs due to exposure to opiate drugs while in the mother's womb

What microdeletion syndrome is associated with supravalvular aortic stenosis and renal artery stenosis?_____

Which form of Crigler-Najjar syndrome is more severe? _____

SCID is characterized by an absent _____ on CXR

Does Hurler syndrome present with corneal clouding? _____