Congenital defects — Flashcards

Does Niemann Pick disease present with hepatosplenomegaly? _____

How does sickle cell anemia present in newborns? Why? _____

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

_____ may be administered to patients with D-transposition of great vessels to maintain a PDA until definitive surgical repair is performed

Biliary atresia presents with _____ and progresses to cirrhosis

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

Which immunodeficiency is characterized by no B-cell maturation? _____

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

What ocular finding is classically seen in Tay-Sachs disease?_____