Congenital defects — Flashcards

What ocular finding is classically seen in Niemann Pick disease?_____

Ornithine transcarbamylase (OTC) deficiency often presents within the first few _____ of life but may present later

What is the most common pathologic lead point for intussusception in children over 2? _____

Biliary atresia typically leads to biliary obstruction within the first 2 _____ of life

Congenital Rubella is characterized by radio-_____ bone lesions

Trisomy 13 _____ have overlapping fingers

Compared to left-to-right shunts, right-to-left shunts lead to cyanosis at a(n) _____ age

α-thalassemia due to a four gene deletion causes _____ (lethal in utero)

Langerhans cell histiocytosis may present as recurrent _____ with a mass involving the mastoid bone

Patients with Zellweger Syndrome often die at a _____ age