Congenital defects — Flashcards

Flashcard 131: Does achondroplasia affect mental function, life span, and/or fertility? _____

Answer: No

Flashcard 132: Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant

Answer: micro

Extra: Other: BH4 = tetrahydrobiopterin

Flashcard 133: What teratogen causes a smooth philtrum and thin upper lip in newborns? _____

Answer: Alcohol (fetal alcohol syndrome)

Flashcard 134: The most common cause of seizure in children is typically _____

Answer: genetic

Flashcard 135: Patients with Edwards syndrome and Patau syndrome often die within _____ year(s) of birth

Answer: 1

Extra: Atlas:

Flashcard 136: Which ocular complication is associated with congenital Rubella? _____

Answer: Cataracts

Flashcard 137: Which immunodeficiency presents with delayed separation of the umbilical cord (>30 days)? _____

Answer: Leukocyte adhesion deficiency

Extra: UWorld:

Flashcard 138: Is Gastroschisis associated with chromosomal abnormalities? _____

Answer: No

Flashcard 139: The skin findings in McCune-Albright syndrome will be _____lateral

Answer: uni

Flashcard 140: What symptoms does ventricular septal defect typically present with at birth? _____

Answer: Typically asymptomatic

Extra: Atlas: