Congenital defects — Flashcards

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

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

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

Congenital Rubella is characterized by _____ retardation

Where is a murmur due to patent ductus arteriosus best heard?_____

What non-megaloblastic macrocytic anemia presents with rapid-onset anemia within the 1st year of life?_____

Hirschsprung disease is characterized by failure to _____ within 48 hours and chronic constipation

Which sex chromosome disorder is associated with short stature, shield chest, and webbed neck in a female? _____

Risk factors for Developmental Dysplasia of the Hip include Females, Firstborns, F_____, and Family History

What congenital anomaly presents with meconium discharge from the umbilicus? _____