Congenital defects — Flashcards

Flashcard 431: What are the three components of the Hutchinson triad seen in late congenital syphilis?

Answer: 1. Interstitial keratitis 2. Hutchinson teeth 3. Sensorineural hearing loss (CN VIII)

Extra: Late congenital syphilis (Hutchinson triad): 1. Interstitial keratitis (inflammation of the corneal stroma) 2. Hutchinson teeth (notched, peg-shaped incisors) 3. Sensorineural hearing loss (CN VIII deafness) Other features: - Early: Snuffles (persistent rhinitis), maculopapular rash on palms/soles, hepatosplenomegaly. - Late: Mulberry molars, saddle nose, saber shins (anterior bowing of the tibia).

Flashcard 432: Trisomy 21 is associated with _____, which are elevated white spots on the iris.

Answer: Brushfield spots

Flashcard 433: What demographic (age group) is associated with juvenile polyposis syndrome? _____

Answer: Children < 5 years old (specific)

Flashcard 434: _____ hemangiomas appear in the first few weeks of life and grow rapidly, before regressing spontaneously

Answer: Strawberry (superficial)

Flashcard 435: Total anomalous pulmonary venous return (TAPVR) is associated with _____ and sometimes PDA to allow for right-to-left shunting

Answer: ASD

Flashcard 436: Nasal polyps are associated with _____ in children

Answer: cystic fibrosis

Flashcard 437: Biliary atresia presents with _____ and progresses to cirrhosis

Answer: jaundice (CB)

Flashcard 438: The most common cause of bladder outlet obstruction in male infants is _____

Answer: posterior urethral valves

Flashcard 439: Which immunodeficiency is characterized by no B-cell maturation? _____

Answer: X-linked (Bruton) agammaglobulinemia

Flashcard 440: _____ syndrome is characterized by many juvenile polyps in the stomach, colon, and small bowel

Answer: Juvenile polyposis