Congenital defects — Flashcards

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

_____ syndrome is a rare genetic disorder characterized by a failure to complete puberty

Which immunodeficiency presents with bone fractures from minor trauma? _____

Congenital varicella syndrome can result in _____ (growth pathology)

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

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

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

Does Niemann Pick disease present with hepatosplenomegaly? _____