Congenital defects — Flashcards

Which CNS tumor compresses the optic chiasm, causing bitemporal hemianopsia, in children? _____

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

DiGeorge syndrome is characterized by an absent _____ on CXR

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

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 _____

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

Clavicle fractures can be seen in newborns due to _____

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

Ornithine transcarbamylase (OTC) deficiency often presents within the first few _____ of life but may present later