Congenital defects — Flashcards

Trisomy 21 is associated with _____, which are elevated white spots on the iris.

What demographic (age group) is associated with juvenile polyposis syndrome? _____

_____ hemangiomas appear in the first few weeks of life and grow rapidly, before regressing spontaneously

Which glycogen storage disorder is associated with cardiomegaly? _____

The most common cause of bladder outlet obstruction in male infants is _____

Which lysosomal storage disease presents with corneal clouding? _____

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

Does Tay-Sachs disease present with hepatosplenomegaly? _____

Total anomalous pulmonary venous return (TAPVR) is associated with _____ and sometimes PDA to allow for right-to-left shunting

_____ syndrome is characterized by many juvenile polyps in the stomach, colon, and small bowel