Skeletal dysplasias — Flashcards

Flashcard 1: 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 2: _____ is the most common cause of dwarfism

Answer: Achondroplasia

Flashcard 3: In Potter sequence, oligohydramnios leads to pulmonary _____

Answer: hypoplasia

Flashcard 4: What pathology is associated with an enlarged jaw, testes, and ears?_____

Answer: Fragile X syndrome

Flashcard 5: Trisomy 13 _____ have overlapping fingers

Answer: does not (does / does not)

Flashcard 6: What MSK pathology is associated with a space between the 3rd and 4th fingers ('trident hands')? _____

Answer: Achondroplasia

Flashcard 7: iodide (lack)

Answer: congenital goiter

Flashcard 8: iodide (excess)

Answer: congenital hypothyroidism

Flashcard 9: What are the most common teratogenic effects of fetal exposure to high-dose X-rays?

Answer: Microcephaly and intellectual disability (mental retardation) in the fetus.

Extra: Ionizing radiation is a known teratogen. The CNS is most sensitive to radiation-induced damage between weeks 8 and 15 of gestation. Other potential effects include growth restriction and eye abnormalities.

Flashcard 10: What are the clinical features of Fetal Hydantoin Syndrome?

Answer: Microcephaly, dysmorphic craniofacial features, hypoplastic nails/distal phalanges, cardiac defects, IUGR, and mental retardation.

Extra: Fetal Hydantoin Syndrome is caused by in utero exposure to anticonvulsants like phenytoin. Key features include digital hypoplasia (classic finding), cleft lip/palate, and growth deficiency.