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16 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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CBFA1 on chromosome 6
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What are the two functions of mutant protein?
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Osteoblast differentiation
Osteocalcin expression |
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What is the zone?
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No zone
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Why?
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Because intramembranous, not enchondral, ossification affected
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Proportionate or disproportionate?
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Proportionate
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ls it usually unilateral or bilateral?
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Usually unilateral
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ls the whole clavicle missing?
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Usually lateral clavicle absent only But sometimes the whole clavicle
is absent (appearance of touchingshoulders) |
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What is the key feature of the head?
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Delayed skull suture closure
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What is the key feature of the hips?
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Coxa vara
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What is the key feature of the pelvis?
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Widened symphysis pubis
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What clavicle is most commonly affected with congenital pseudarthrosis?
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Right
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ls involvement generally unilateral or bilateral?
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Unilateral
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What portion of the clavicle is missing?
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Center: medial and lateral clavicle not united
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How are the majority of patients with congenital pseudarthrosis successfully treated?
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Nonoperatively
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What is the indication for surgery with this condition?
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Scapular winging
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