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21 Cards in this Set
- Front
- Back
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What is (are) the two associated inheritance patterns?
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Congenita: AD
Tarda: X-linked |
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What is the gene?
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COL2A1
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What is the mutation?
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Type ll collagen
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What is the zone?
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Epiphyseal
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Does the disorder result in proportionate or disproportionate dwarfism?
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Disproportionate
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What is the subclassification (short limb or short trunk)?
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Short trunk
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Spondyloepiphyseai dysplasia must be differentiated from which
disorder? |
Multiple epiphyseal dysplasia (MED)
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What is the key feature of the face?
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Flat
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What is the relative severity of congenita?
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More severe than tarda
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What are the two key features of the hips?
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Delayed epiphyseal appearance
Coxa vara |
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What are the two key features of the spine?
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Odontoid hypoplasia
Vertebral beaking |
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What is the key feature of the knees?
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Genu valgum
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What is the key feature of the feet?
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Clubfeet
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Relative severity?
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Less severe
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What is the key feature of the legs?
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No angular deformity
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In all types of spondyloepiphyseal dysplasia, what organ must be checked? For what?
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Eyes, for retinal detachment
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What are the two inheritance forms?
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AD, as in Conradi-l-Iunermann
Autosomal recessive (AR) |
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What is the mutation?
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Peroxisomal enzymatic defect
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What is the relative severity of Conradi-Hunermann? What are the key features?
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Less severe
Variable features |
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What is the relative severity of the AR form? Rhizo, meso, or acro? What is the prognosis?
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More severe
Rhizomelic dwarfism Fatal early |
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What is the x-ray appearance of either type?
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Multiple punctate calcifications
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