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39 Cards in this Set
- Front
- Back
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What is the inheritance?
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AD
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What is the mutation?
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COMP
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What is the zone?
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Reserve
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What is the key feature of the face?
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Normal
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What is the key feature of the spine?
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Cervical instability
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What are the two key features of the joints?
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Flexion contractures
Osteoarthritis |
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What are the two general characteristics of the x-ray appearance?
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Metaphyseal flaring
Delayed epiphyseal ossification |
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What is the inheritance?
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AD
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What is the mutation?
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Type Il collagen
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What is the zone?
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Reserve zone
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Proportionate or disproportionate?
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Disproportionate
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What is the subclassification?
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Short trunk
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What is the key feature of the joints?
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Contractures
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What is the femoral appearance?
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Dumbbell shaped
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What two clinical problems is it associated with?
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Retinal detachment
Cleft palate |
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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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Sulfate transport protein on
chromosome 5 |
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What is the zone?
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Reserve
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Proportionate or disproportionate?
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Disproportionate
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What is the subclassification?
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Short limb
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What are the two key features of the face?
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Cleft palate
Cauliflower ears |
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What are the two key features of the spine? What is the natural history?
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Atlantoaxial instability
Cervical kyphosis: spontaneously resolves |
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What is the key feature of the joints?
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Contractures
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What is the key feature of the hips?
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Dysplasia
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What are the two key features of the feet?
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Bilateral skewfoot
Rigid clubfoot |
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What is the key feature of the hands?
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Hitchhiker thumbs
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What is the inheritance?
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AR
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What is the zone?
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Reserve
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What is the classification?
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Lysosomal storage disease
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What is accumulated?
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Cerebroside
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What population is particularly at risk?
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Ashkenazi Jews
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What is the key feature of the hips?
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Femoral head necrosis
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What is the key feature ofthe knees?
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Erlenmeyer flask shaped distal femur
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What is the key feature of the organs?
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Hepatosplenomegaly (HSM)
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What is the key feature of the pain?
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Bone pain indicates Gaucher crisis
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What is the x-ray appearance of involved bone?
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Moth-eaten
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What is the inheritance?
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AR
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What is accumulated?
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Sphingomyelin
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What are the two key features of the bones?
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Expanded marrow space
Cortical thinning |
