Congenital defects — Flashcards

Tay-Sachs disease may present with progressive _____ and developmental delay

Autosomal recessive PKD presents in infants as worsening renal failure and _____

Hint: BP

Meckel diverticulum typically presents during the first two _____ of life

Congenital varicella syndrome can result in _____

Hint: cutaneous pathology

The symptoms of Wiskott-Aldrich syndrome may be remembered with the mnemonic "WATER": W: Wiskott A: Aldrich T: _____ E: Eczema R: Recurrent (pyogenic) infections

What sex chromosome disorder is associated with horseshoe kidney? _____

Newborn males with posterior urethral valves may have a(n) _____ mass and bilateral hydronephrosis

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

Fetal alcohol syndrome and DiGeorge syndrome may predispose to _____

Hint: which congenital heart defect?

Which congenital RNA viral infection can present with blueberry muffin rash? _____