Congenital defects — Flashcards

Flashcard 61: Defects with left-to-right shunting may be relatively asymptomatic at birth, but the shunt can eventually _____

Answer: reverse

Flashcard 62: D-transposition of great vessels is not compatible with life unless a(n) _____ is present

Answer: shunt

Extra: Mixing of blood is required for survival. This can occur via a VSD, PDA, or PFO.

Flashcard 63: Wilms tumor may present with _____ due to increased renin secretion

Answer: hypertension

Extra: Atlas:

Flashcard 64: Is dysplastic kidney heritable? _____

Answer: No

Extra: Atlas:

Flashcard 65: Umbilical hernias can be seen in association with _____

Answer: down syndrome

Flashcard 66: Posterior urethral valves (PUV) may present with _____ and _____ at birth due to urinary outlet obstruction

Answer: post-renal AKI

Extra: Posterior urethral valves (PUV) are the most common cause of bladder outlet obstruction in male newborns. Clinical features: * Palpable distended bladder * Weak/dribbling urinary stream * Bilateral hydronephrosis and hydroureter * Post-renal AKI (elevated creatinine in the newborn)

Flashcard 67: One cause of cretinism is _____, which is due to a congenital defect in thyroid hormone production

Answer: dyshormonogenetic goiter

Extra: * Dyshormonogenetic goiter (congenital defect in thyroid hormone production) most commonly involves a thyroid peroxidase deficiency

Flashcard 68: Which immunodeficiency is associated with increased serum alpha-fetoprotein (AFP)? _____

Answer: Ataxia-telangiectasia

Extra: Atlas:

Flashcard 69: Risk factors for Developmental Dysplasia of the Hip include Females, Firstborns, F_____, and Family History

Answer: eet First (breech presentations)

Flashcard 70: Congenital hydrocephalus often presents initially with macrocephaly, muscle _____tonicity and _____reflexia, and a(n) bulging fontanelle

Answer: hyper