Congenital defects — Flashcards

-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? _____

Which ocular complication is associated with congenital Rubella?_____

Most patients with truncus arteriosus have accompanying _____ defect

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

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

Is omphalocele associated with chromosomal abnormalities?_____

_____ polyps usually present in childhood as a solitary rectal polyp that prolapses and bleeds

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

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