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33 Cards in this Set
- Front
- Back
Achondroplasia inheritence pattern
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AD
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What are the characteristics of achondroplasia?
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most common cause of dwarfism; point mutation fin gene that codes FGF receptor 3 on chromosome 4 --> inhibits cartilage proliferation
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Why is thanatropic dwarfism lethal?
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It is lethal secondary to respiratory insufficiency.
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What is the inheritance pattern of osteogenesis imperfecta?
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AD
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What is the defect in osteogenesis imperfecta?
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The synthesis of type I collagen.
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What is the difference between type I and type II osteogenesis imperfecta?
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Type II is fatal in utero or perinatal period. Type I is normal lifespan with increased fractures.
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What is mucopolysaccharidoses?
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Lysosomal storage disease that involves a defect in folding and degradation of hyaline cartilage.
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"chalkstick" fractures
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osteopetrosis OR paget disease
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What causes postmenopausal osteoporosis?
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Increased production of IL-1, IL-6 and TNF secondary to decreased estrogen, increasing bone absorption.
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Diagnosis of secondary osteoporosis.
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dual energy absorptiometry (DEXA) and quantitative CT; Calcium, phosphorus and alkaline phosphate are NOT diagnostic!
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Lab for secondary osteoporosis.
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Urinary hydroxypyridium, N-telopeptides.
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“Collage of matrix madness”.
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Paget Disease
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Pagets Disease results in a gain or loss of bone mass?
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Results in a gain of bone mass
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Lab for Pagets disease.
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Elevated serum alkaline phosphatase and urinary hydroxyproline
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What is rickets and osteomalacia and what is the difference between the two?
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Defect in matrix mineralization related to a lack of vitamin D. Osteomalacia - adults
Rickets - children |
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generalized osteitis fibrosa cystica also known as _________.
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(von Recklinghausen disease of bone).
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Characteristics of Hyperparathyroidism
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recurrent kindney stones, peptic ulcers (groans), and psychiatric moans
stones, groans, & moans |
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What is osteonecrosis?
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Infarction of bone and marrow resulting from ischemia.
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Osteochondritis Dissecans primarily affects _____?
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males in their teens and twenties.
It is subchondral osteonecrosis involving the medial femoral condyle of the knee. |
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What is Legg-Calve-Perthes disease?
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Episodes of infarction with necrosis of the epiphysis affecting children (overweight) with males 4X more common.
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Most common organism responsible for acute pyogenic osteomyelitis.
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Staph Aureus
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Most common organism responsible for acute pyogenic psteomyeltis in patients with sickle cell disease.
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Salmonella.
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What is the sequestrum and involucrum?
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sequestrum = dead bone
involucrum = sleeve of new bone |
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What is Potts Disease?
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Extrapulmonary tuberculosus that affects the spine.
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Multiple osteomas occur in ________ syndrome.
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Gardner
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Osteoid osteoma
Osteoblastoma differences |
osteoid osteoma pain relieved by aspirin osteoblastoma pain not relieved by aspirin.
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osteosarcoma is associated with __________ disease and mutations in ________ gene
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Paget's disease
RB gene |
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An xray of an osteosarcoma would show.
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Codmans triangle
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multiple chondromas:
multiple chondromas with hemangiomas and risk of malignancy: |
multiple chondromas: ollier disease
multiple chondromas with hemangiomas and risk of malignancy: Mafucci syndrome |
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Characteristics of chondroblastoma.
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Clinical: young patient with painful mass in the epiphyses near the knee, and joint effusion.
X-ray: Well-defined geographic lucency with calcifications. |
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Chondromyxoid fibroma characteristics.
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Clinical: Rare, dull, achy tumor arising in the metaphysis of long tubular bones.
X-ray: Geographic lucency with rim of sclerotic bone. |
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Herringbone or storiform pattern of malignant fibroblasts.
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Fibrosarcoma
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Ewing Sarcoma microscopy and associated genetics.
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Homer Wright rosettes
t(11;22) |