Syndromes Flashcards by niki baumer

Q

MPS type II with iduronate 2 sulfatase def,

Inheritance?

A

Hunters, X-linked

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Q

X-linked recessive, mutation of L1CAM w/ cerebral aqueduct stenosis, severe hydrocephalus, ID, thumb deformity

A

Bickers Adams

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Q

MPS type I with alpha L-iduronidase def

Inheritance?

A

Hurler’s, AR

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