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33 Cards in this Set
- Front
- Back
- 3rd side (hint)
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is achondroplasia autosomal recessive or dominant? what is the mutation?
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dominant
impaired cartilage maturation in growth plate caused by fibroblast growth factor receptor (FGFR3) mutation |
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what type of ossification is spared in achondroplasia?
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intramembranous
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what is the main problem in osteoporosis?
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reduction of bone mass but normal mineralization
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what is the cause type I osteoporosis?
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postmenopausal -- increased bone resorption due to decreased estrogen
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what is type II osteoporosis? who is effected?
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senile osteoporosis
men and women > 70 are affected |
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how do you prevent type II?
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exercise and adequate calcium before age 30
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what is osteopetrosis?
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failure of normal bone resorption --- thickened, dense bones
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what cells are defective in osteopetrosis?
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osteoclasts
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what are the levels of calcium, phos., and alk phos in osteopetrosis?
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all normal
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what is the genetic deficiency assoc. with osteopetrosis?
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deficiency of carbonic anhydrase II
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what does x-ray show in osteopetrosis?
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"erlenmeyer flask" bones that flare out
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what is the main problem in osteomalacia/ rickets?
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defective mineralization/ calcification of osteoid leading to soft bones
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what is the cause of osteomalacia/ rickets?
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vitamin D deficiency (osteomalacia in adults, rickets in children)
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what causes osteitis fibrosa cystica?
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hyperparathyroidism
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what bone problem is assoc. with brown tumors?
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osteitis fibrosa cystica resulting from hyperparathyroidism
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what is paget's disease?
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abn bone architecture caused by increase in both osteoclastic and osteoblastic activity
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what is the only marker increased in paget's disease?
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alkaline phosphatase
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what bone disease can result in high output CHF? by what mech?
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paget's disease -- increased arteriovenous shunts
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what is the most threatening complication of paget's disease?
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osteogenic sarcoma
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what is polyostotic fibrous dysplasia?
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bone is replaced by fibroblasts, collagen and irregular bony trabeculae
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what is McCune-Albright syndrome?
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form of polyostotic fibrous dysplasia characterized by multiple unilateral bone lesions and endocrine abnormalities
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what primary bone tumor is assoc. with Gardner's syndrome?
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osteoma
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where are osteoblastomas usually found?
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vertebral column
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where do giant cell primary bone tumors usually occur?
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epiphyseal end of long bones
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what is characteristic of giant cell primary bone tumors on x-ray?
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"double bubble" or "soap bubble" appearance
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what is the most common benign bone tumor?
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osteochondroma
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what type of bone is an enchondroma usually found?
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intramedullary bone
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what is the 2nd most common primary malignant tumor of bone after multiple myeloma?
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osteosarcoma
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what is the age of peak incidence of osteosarcoma?
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10 - 20 years
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what is characteristic of osteosarcoma on x-ray?
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Codman's triangle or sunburst pattern
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what are some of the predisposing factors for osteosarcoma?
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Paget's disease of bone, bone infarcts, radiation, familial Rb
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what is the characteristic appearance of Ewing's sarcoma in bone?
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"onion-skin" appearance
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"going out for Ewing's and onion rings"
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what is the translocation assoc. with Ewings?
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t(11;22)
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11 + 22 = 33 -- Patrick Ewing's jersey number
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