Congenital defects — Flashcards

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

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

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

Which glycogen storage disorder is associated with cardiomegaly? _____

Which immunodeficiency is characterized by no B-cell maturation? _____

Biliary atresia presents with _____ and progresses to cirrhosis

What symptoms does ventricular septal defect typically present with at birth?_____

The most common cause of bladder outlet obstruction in male infants is _____

_____ syndrome is characterized by many juvenile polyps in the stomach, colon, and small bowel

Total anomalous pulmonary venous return (TAPVR) is associated with _____ and sometimes PDA to allow for right-to-left shunting