Congenital defects — Flashcards

Flashcard 361: What viral TORCH infection can present with microcephaly, ventriculomegaly and periventricular calcifications in the brain? _____

Answer: CMV

Flashcard 362: Child with orange plaque on scalp (hairless) or face is a(n) _____ with _____

Answer: nevus sebaceous

Flashcard 363: At what age should **phenylketonuria (PKU) screening** be performed? _____

Answer: Newborn period (ideally > 24 hours of life)

Extra: Screening is ideally performed after 24 hours of life to allow for sufficient protein (phenylalanine) intake, ensuring the test's accuracy. If performed earlier, it may result in a false negative and should be repeated.

Flashcard 364: Choanal atresia is associated with CHARGE syndrome: _____

Answer: Coloboma Heart defects Atresia choanae (choanal atresia) Retardation of growth Genital abnormalities Ear abnormalities

Flashcard 365: Leukocoria (white reflex) and strabismus is suggestive of _____

Answer: retinoblastoma

Flashcard 366: What is the most common cause of urinary tract obstruction in newborn boys? _____

Answer: Posterior urethral valves

Flashcard 367: ↑ FSH with absent breast development and no pubic hair is managed with _____

Answer: karyotype

Flashcard 368: A continuous machinery murmur best heard over the left interscapular area is indicative of _____

Answer: coarctation of the aorta

Flashcard 369: Severe microcephaly with thin cerebral corticies and multiple intracranial calcifications is suggestive of _____

Answer: congenital Zika syndrome

Flashcard 370: Turner syndrome increases risk of what two cardiovascular conditions? _____

Answer: Bicuspid aortic valve Coarctation of aorta (infantile)