Congenital defects — Flashcards

What is the second most common cause of genetic intellectual disability? _____

What pathology is associated with microcephaly, intellectual disability, and a high-pitched cry? _____

Which ocular complication is associated with congenital Rubella?_____

β-thalassemia _____ is the most severe form of the disease; causes severe anemia a few months after birth

Most patients with truncus arteriosus have accompanying _____ defect

Wiskott-Aldrich syndrome is associated with increased risk for autoimmune disease and _____

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

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

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

Is omphalocele associated with chromosomal abnormalities?_____