Congenital defects — Flashcards

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

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

Is omphalocele associated with chromosomal abnormalities?_____

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

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

Congenital Rubella is characterized by _____ of the head

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

Esophageal atresia with distal TEF may present with abdominal distention due to _____ in the stomach (visible on CXR)