Congenital defects — Flashcards

Flashcard 421: Does Niemann Pick disease present with hepatosplenomegaly? _____

Answer: Yes

Flashcard 422: Does Hunter syndrome present with corneal clouding? _____

Answer: No

Flashcard 423: What pathology is characterized by insatiable appetite (hyperphagia), obesity, intellectual disability, and hypogonadism? _____

Answer: Prader-Willi syndrome

Flashcard 424: How does sickle cell anemia present in newborns? Why? _____

Answer: Asymptomatic (high HbF, low HbS)

Flashcard 425: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty

Answer: Kallmann

Flashcard 426: Congenital varicella syndrome can result in _____ (growth pathology)

Answer: limb hypoplasia

Flashcard 427: Duchenne muscular dystrophy presents with weakness in the _____ muscles and progresses superiorly

Answer: pelvic girdle

Flashcard 428: Which immunodeficiency presents with bone fractures from minor trauma? _____

Answer: Job (hyper-IgE) syndrome

Flashcard 429: 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 430: What demographic (age group) is associated with juvenile polyposis syndrome? _____

Answer: Children < 5 years old (specific)