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28 Cards in this Set
- Front
- Back
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What is the zone?
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Hypertrophic zone
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Proportionate or disproportionate?
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Proportionate
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What is the most common type?
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Morquio’s
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What type results in the shortest height?
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Morquio's
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What type has the worst prognosis?
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Hurler’s, fatal by age 10
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What is the general feature of the hips?
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Coxa vara
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What are the two general features of the spine?
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Vertebral beaking
Odontoid hypoplasia/instability: may lead to myelopathy |
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What is the general feature of the hands?
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Bullet metacarpals
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What is the general feature of the knees?
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Genu valgum
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What is the inheritance?
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X linked recessive
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Intelligence is generally ?
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Decreased
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What is the key feature of the cornea appearance?
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Clear
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What is excreted in urine?
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Dermatan/heparan sulfate
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What is the inheritance?
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AR
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What is the mutation?
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Alpha-L-iduronidase
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Intelligence is generally ?
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Decreased
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What is the key feature of the cornea appearance?
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Cloudy
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What is excreted in urine?
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Dermatan/heparan sulfate
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What is the inheritance?
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AR
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What is the mutation?
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N-acetylgalactose-6 sulfate
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Intelligence is generally?
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Normal
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What is the key feature of the cornea appearance?
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Cloudy
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What is excreted in urine?
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Keratan sulfate
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What is the inheritance?
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AR
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Intelligence is generally?
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Decreased
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What is the key feature of the cornea appearance?
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Clear
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What is excreted in urine?
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Heparan sulfate
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What feature is unique to Sanlilippo?
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Development is normal until age 2
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