Congenital defects — Flashcards

Does Hurler syndrome present with corneal clouding? _____

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

_____ is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle

Patients with Tetralogy of Fallot often experience "_____ spells" which may be caused by crying, fever, and exercise due to exacerbation of RV outflow obstruction

_____ is a form of congenital hypothyroidism that presents with developmental delay, protruding umbilicus, pot belly, and protruding tongue.

What sensory loss can result from congenital toxoplasmosis?_____

Uncorrected patent ductus arteriosus may eventually result in late cyanosis in the _____ extremities

IPEX syndrome is associated with diabetes in _____ infants (gender)

Why is screening for phenylketonuria performed 2-3 days after birth? _____

Which form of Rubella, adult or congenital, presents with sensorineural deafness?_____