Congenital defects — Flashcards

Where is a murmur due to ventricular septal defect the loudest? _____

Hirschsprung disease may present with abdominal distention and _____ vomiting (bilious or nonbilious)

Tay-Sachs disease may present with progressive _____ and developmental delay

What pathology is associated with intellectual disability, prominent epicanthal folds, and a single palmar crease? _____

Infants with _____ choanal atresia can present with upper airway obstruction and cyanosis with feeding

What pathology is characterized by inappropriate laughter, seizures, ataxia, and severe intellectual disability?_____

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

Congenital Rubella is characterized by _____ of the head

Cystic fibrosis may present as _____ in newborns due to abnormally thick ("inspissated") stool

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