Congenital defects — Flashcards

When should cryptorchidism be surgically corrected with orchiopexy? _____

Some VSDs are asymptomatic at birth due to _____

Hint: reason

The features of a chromosome 22q11 microdeletion (DiGeorge Syndrome) may be remembered with the mnemonic "CATCH 22": C: _____ A: _____ T: _____ C: _____ H: _____ 22: chromosome affected

Why are children with cyanotic congenital heart disease (e.g. tetralogy of Fallot) at an increased risk for brain abscess? _____

Does congenital hypothyroidism present with hepatomegaly? _____

What is the likely diagnosis in an infant that presents with failure to thrive, absent lymph nodes, and leukopenia with a history of Pneumocystis jirovecii and Candida infection? _____

How does infant with intussusception present? _____

Snuffles and Hutchinson (notched) teeth = _____

Could present as failure to pass meconium in a 2 day old, or as constipation in a 2 year old? _____

Is gastroschisis or omphalocele associated with more health concerns, ex. chromosomal abnormalities? _____