Congenital defects — Flashcards

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

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

A continuous, machine-like murmur is indicative of what pathology? _____

Trisomy 13 _____ have overlapping fingers

Patients with Zellweger Syndrome often die at a _____ age

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

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

Congenital Rubella is characterized by radio-_____ bone lesions

Patients with Zellweger Syndrome present with a profound _____, seizures, and hepatomegaly