Turner syndrome — Flashcards

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 sulfatemild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly + aggressive behavior - corneal clouding XRiduronate sulfatase

Flashcard 8: Hurler's syndrome

Answer:

Extra: accumulation of heparan/dermatan sulfatedevelopmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegalyARα-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 problemshypercalcemia7q microdeletion (including elastin gene)