Congenital defects — Flashcards

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

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

Which immunodeficiency is associated with albinism? _____

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

Why is -thalassemia major not problematic at birth? _____

Congenital Rubella is characterized by _____ of the eye

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

What is the mode of inheritance of juvenile polyposis syndrome? _____

What is the most common cause of chronic pancreatitis in children? _____

Congenital varicella syndrome can result in _____ (ocular pathology)