Congenital defects — Flashcards

Flashcard 451: In its most severe form, fetal alcohol syndrome may cause facial clefts and which midline brain malformation?

Answer: Holoprosencephaly (and facial clefts)

Extra: Fetal alcohol syndrome is a leading cause of congenital intellectual disability. It is thought to result from failure of cell migration. In severe cases, disruption of midline development (e.g., via Sonic Hedgehog pathway disruption) can lead to holoprosencephaly and facial clefting. Other high-yield features: - Facial dysmorphism: Short palpebral fissures, smooth philtrum, thin upper lip (vermilion border). - Cardiac: VSD is common. - Growth: Prenatal and postnatal growth retardation.

Flashcard 452: Which form of Crigler-Najjar syndrome is more severe? _____

Answer: Type I

Flashcard 453: 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 454: Why is screening for phenylketonuria performed 2-3 days after birth? _____

Answer: May be normal at birth due to maternal enzymes

Flashcard 455: _____ is a form of congenital hypothyroidism that presents with developmental delay, protruding umbilicus, pot belly, and protruding tongue.

Answer: Cretinism

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

Answer: lower

Flashcard 457: IPEX syndrome is associated with diabetes in _____ infants (gender)

Answer: male

Flashcard 458: _____ is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle

Answer: Ebstein anomaly

Flashcard 459: Which form of Rubella, adult or congenital, presents with sensorineural deafness?_____

Answer: Congenital

Flashcard 460: 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).