Congenital defects — Flashcards

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

What newborn screening blood test is used to screen for cystic fibrosis? _____

Presence of _____ umbilical artery is associated with congenital and chromosomal anomalies

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

_____ polyps usually present in childhood as a solitary rectal polyp that prolapses and bleeds

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

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

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?_____

_____ is a congenital absence of gyri that is typically accompanied by severe mental retardation and seizures