Congenital defects — Flashcards

Flashcard 421: Trisomy 21 is associated with _____, which are elevated white spots on the iris.

Answer: Brushfield spots

Flashcard 422: 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 423: Duchenne muscular dystrophy presents with weakness in the _____ muscles and progresses superiorly

Answer: pelvic girdle

Flashcard 424: Congenital varicella syndrome can result in _____ (growth pathology)

Answer: limb hypoplasia

Flashcard 425: Right-to-left shunts typically require urgent surgical treatment and/or maintenance of a _____

Answer: PDA

Flashcard 426: Does Hunter syndrome present with corneal clouding? _____

Answer: No

Flashcard 427: Which immunodeficiency presents with bone fractures from minor trauma? _____

Answer: Job (hyper-IgE) syndrome

Flashcard 428: Which glycogen storage disorder is associated with cardiomegaly? _____

Answer: Pompe disease

Flashcard 429: What pathology is characterized by insatiable appetite (hyperphagia), obesity, intellectual disability, and hypogonadism? _____

Answer: Prader-Willi syndrome

Flashcard 430: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty

Answer: Kallmann