Congenital defects — Flashcards

Does Niemann Pick disease present with hepatosplenomegaly? _____

Right-to-left shunts typically require urgent surgical treatment and/or maintenance of a _____

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

Which glycogen storage disorder is associated with cardiomegaly? _____

Biliary atresia presents with _____ and progresses to cirrhosis

Which lysosomal storage disease presents with corneal clouding? _____

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

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

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