Congenital defects — Flashcards

Classic galactosemia causes brain damage, which manifests as _____

What is the characteristic cytogenetic finding in patients with Bloom syndrome?

Clavicle fractures can be seen in newborns due to _____

Compared to right-to-left shunts, left-to-right shunts lead to cyanosis at a(n) _____ age

Umbilical hernias can be seen in association with _____

Leukocyte adhesion deficiency is characterized by recurrent bacterial infections with absent _____ formation

DiGeorge syndrome is characterized by an absent _____ on CXR

Esophageal atresia with distal TEF is characterized by failure to pass a _____ tube into the stomach

What chromosomal abnormality is commonly associated with endocardial cushion defects? _____

What ocular finding is classically seen in Niemann Pick disease?_____