Congenital defects — Flashcards

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

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

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

What chromosomal abnormality is commonly associated with endocardial cushion defects? _____

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

Congenital Rubella is characterized by radio-_____ bone lesions

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

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

Patients with Zellweger Syndrome often die at a _____ age

Trisomy 13 _____ have overlapping fingers