Congenital defects — Flashcards

Flashcard 101: _____ is the failure of the testicle to descend into the scrotal sac

Answer: Cryptorchidism

Extra: Cryptorchidism is more common in premature infants. Treatment is surgical (orchiopexy); hormonal therapy (e.g., hCG or GnRH analogues) is generally not recommended due to low efficacy. Note: The hormone involved in the first phase of testicular descent is **Insulin-like factor 3 (INSL3)**, not IGF3.

Flashcard 102: Congenital Rubella infection is characterized by a classic triad of _____, _____, and _____

Answer: cataracts

Flashcard 103: Patients with a 5a-reductase deficiency commonly also have a micropenis and _____spadias

Answer: hypo

Flashcard 104: Wiskott-Aldrich syndrome is associated with increased risk for autoimmune disease and _____

Answer: malignancy

Extra: *Wasp nest= Wiskott-Aldrich

Flashcard 105: What is the mode of inheritance of Bartter syndrome? _____

Answer: Autosomal recessive

Flashcard 106: Which congenital DNA viral infection can present with blueberry muffin rash? _____

Answer: Congenital CMV

Flashcard 107: Retinoblastoma is an eye cancer associated with a(n) _____ reflex, rather than the normal red reflex

Answer: white

Extra: Atlas:

Flashcard 108: Ebstein anomaly manifests as early cyanosis and dilation of the _____ in an infant

Answer: right atrium

Flashcard 109: Potter sequence may be caused by _____ (e.g. posterior urethral valves)

Answer: bladder outlet obstruction

Extra: - A posterior urethral valve is an obstructing membrane at the end of the bladder - It is the most common cause of bladder outlet obstruction in male newborns (can't pee out amniotic fluid → oligohydramnios → Potter sequence) - Potter sequence (oligohydramnios, limb/facial deformities, and pulmonary hypoplasia) due to lack of amniotic "cushion"

Flashcard 110: Calcium **oxalate** stones are the most common kidney stone found in _____

Answer: children

Extra: Calcium oxalate stones are the most common kidney stone found in both adults and children. Calcium phosphate stones are associated with alkaline urinary pH (e.g., distal RTA).