Congenital defects — Flashcards

Does achondroplasia affect mental function, life span, and/or fertility? _____

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

Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant

The most common cause of seizure in children is typically _____

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

Which ocular complication is associated with congenital Rubella? _____

Which immunodeficiency presents with delayed separation of the umbilical cord (>30 days)? _____

The skin findings in McCune-Albright syndrome will be _____lateral

Hint: uni/bi

Is Gastroschisis associated with chromosomal abnormalities? _____

What symptoms does ventricular septal defect typically present with at birth? _____