Congenital defects — Flashcards

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

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

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

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

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

Is omphalocele associated with chromosomal abnormalities?_____

Congenital Rubella is characterized by _____ of the head

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

How soon after birth do symptoms of galactose metabolism disorders present? _____

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