Congenital defects — Flashcards

Does Niemann Pick disease present with hepatosplenomegaly? _____

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

Duchenne muscular dystrophy presents with weakness in the _____ muscles and progresses superiorly

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

Congenital varicella syndrome can result in _____ (growth pathology)

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

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

Does Hunter syndrome present with corneal clouding? _____

Which glycogen storage disorder is associated with cardiomegaly? _____