Congenital defects — Flashcards

What clinical features are seen in 21-hydroxylase deficiency that are a result of increased androgen levels in females? _____

Congenital Rubella is characterized by _____ of the eye

What is the most common congenital heart defect that causes early cyanosis?_____

Why is beta-thalassemia major not problematic at birth?

Are extragonadal germ cell tumors in the sacrococcygeal and intracranial regions most commonly associated with adults or infants / young children?_____

Which immunodeficiency is associated with albinism? _____

_____ syndrome causes jaundice and kernicterus early in life; patients often die within a few years

_____ presents as chorioretinitis, hydrocephalus, and intracranial calcifications

The most common cause of cretinism in the U.S. is _____

How soon after birth does pyloric stenosis typically present? _____