Congenital defects — Flashcards

_____ 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?_____

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

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

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

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

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

Is omphalocele associated with chromosomal abnormalities?_____