Congenital defects — Flashcards

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

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

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

_____ syndrome is a form of long QT syndrome that involves sensorineural deafness

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

Which ocular complication is associated with congenital Rubella?_____

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

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

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

Is omphalocele associated with chromosomal abnormalities?_____