Congenital defects — Flashcards

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

What pathology is associated with intellectual disability, prominent epicanthal folds, and a single palmar crease? _____

Infants with _____ choanal atresia can present with upper airway obstruction and cyanosis with feeding

Is omphalocele associated with chromosomal abnormalities?_____

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

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

What teratogen causes a smooth philtrum and thin upper lip in newborns?_____

How soon after birth do symptoms of galactose metabolism disorders present? _____

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

Patients with Edwards syndrome and Patau syndrome often die within _____ year(s) of birth