Congenital defects — Flashcards

Flashcard 451: What congenital renal defect may cause portal hypertension in an infant?_____

Answer: Autosomal recessive PKD

Flashcard 452: Neonatal _____ syndrome occurs due to exposure to opiate drugs while in the mother's womb

Answer: abstinence

Flashcard 453: IPEX syndrome is associated with diabetes in _____ infants (gender)

Answer: male

Flashcard 454: _____ is a form of congenital hypothyroidism that presents with developmental delay, protruding umbilicus, pot belly, and protruding tongue.

Answer: Cretinism

Flashcard 455: Patients with Tetralogy of Fallot often experience "_____ spells" which may be caused by crying, fever, and exercise due to exacerbation of RV outflow obstruction

Answer: tet

Flashcard 456: Uncorrected patent ductus arteriosus may eventually result in late cyanosis in the _____ extremities

Answer: lower

Flashcard 457: Which form of Rubella, adult or congenital, presents with sensorineural deafness?_____

Answer: Congenital

Flashcard 458: Why is screening for phenylketonuria performed 2-3 days after birth? _____

Answer: May be normal at birth due to maternal enzymes

Flashcard 459: What sensory loss can result from congenital toxoplasmosis?

Answer: Vision loss (due to chorioretinitis)

Extra: The classic triad of congenital toxoplasmosis includes: 1. **Chorioretinitis** (leading to vision loss) 2. **Hydrocephalus** 3. **Intracranial calcifications** (diffuse) **Note:** While sensorineural hearing loss (deafness) can occur in toxoplasmosis, it is the hallmark sensory deficit of **congenital CMV** (most common cause) and **congenital rubella** (part of the classic triad).

Flashcard 460: _____ is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle

Answer: Ebstein anomaly