Congenital defects — Flashcards

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

Which immunodeficiency presents with bone fractures from minor trauma? _____

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

Does Niemann Pick disease present with hepatosplenomegaly? _____

What pathology is characterized by insatiable appetite (hyperphagia), obesity, intellectual disability, and hypogonadism? _____

Which glycogen storage disorder is associated with cardiomegaly? _____

Does Hunter syndrome present with corneal clouding? _____

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

Congenital varicella syndrome can result in _____ (growth pathology)

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