Congenital defects — Flashcards

Patients with a 5a-reductase deficiency commonly also have a micropenis and _____spadias

Congenital Rubella infection is characterized by a classic triad of _____, _____, and _____

_____ is the failure of the testicle to descend into the scrotal sac

What is the mode of inheritance of Bartter syndrome? _____

Wiskott-Aldrich syndrome is associated with increased risk for autoimmune disease and _____

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

Retinoblastoma is an eye cancer associated with a(n) _____ reflex, rather than the normal red reflex

Ebstein anomaly manifests as early cyanosis and dilation of the _____ in an infant

Calcium phosphate stones are the most common kidney stone found in  _____

Hint: demographic

Potter sequence may be caused by _____ (e.g. posterior urethral valves)