Turner syndrome US Medical PG Flashcards - Medical Study Cards
Master Turner syndrome with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Turner syndrome Flashcard Deck - 10 Cards
Flashcard 1: The infantile form of coarctation of the aorta is associated with _____ syndrome
Answer: Turner
Flashcard 2: Is omphalocele associated with chromosomal abnormalities?_____
Answer: Yes
Flashcard 3: Rett syndrome is almost exclusively seen in _____ (gender)
Answer: females
Flashcard 4: _____ is the isolated, temporary halting of skeletal growth in the absence of other causal physical abnormalities
Answer: Constitutional delay of growth and puberty
Flashcard 5: What pathology is associated with an enlarged jaw, testes, and ears?_____
Answer: Fragile X syndrome
Flashcard 6: Trisomy 13 _____ have overlapping fingers
Answer: does not (does / does not)
Flashcard 7: Hunter's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfate mild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly
+ aggressive behavior
- corneal clouding
XR iduronate sulfatase
Flashcard 8: Hurler's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfate developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly AR α-L-iduronidase
Flashcard 9: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?
Answer: cardiac, palate, facial defects
Flashcard 10: Williams syndrome
Answer:
Extra: elfin facies, mild retardation, hyper-verbal, hyper-friendly, diverse cardiovascular problems hypercalcemia 7q microdeletion (including elastin gene)
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