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Describe Achondroplasia
Mutations that inhibit normal growth at the growth plates of bone
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What is the disease that causes mutations that prevent normal growth at the growth plates of bones?
Achondroplasia
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What are the pathogenic effects of Achonroplasia?
- Short stature
- Reduced growth of long bones
- Poorly organized epiphyseal cartilage
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What are the physical manifestations of Achondroplasia?
- Short extremities
- Bowed legs
- Lordotic (sway back)
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What disease is suspect if a patient presents with Lordotic posture, short extremities and lowed legs?
Achonroplasia
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What is the cause of Achondroplasia?
Autosomal Dominant mutation
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What is another term for Osteogenesis imperfecta?
Brittle bone disease
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What is another name for Brittle bone disease?
Osteogenesis imperfecta
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Describe Osteogenisis imperfecta:
Abnormal collagen formation that leads to bone fragility
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What disease includes abnormal collagen formation and resultant bone fragility?
Osteogenesis Imperfecta (brittle bone disease)
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What disease may clinically resemble child abuse?
Osteogenesis Imperfecta (brittle bone disease)
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How does Osteogenesis Imperfecta manifest itself?
- Multiple bone fractures
- In severe cases can cause fratures and death in utero
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What disease of the bone, also includes hearing loss, abnormal teeth and blue scera issues?
Osteogenesis Imperfecta (brittle bone)
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Wht does Osteogenesis imperfecta include issues witht teeth, hearing loss and blue sclera?
Any Collagen containing area of the body can be affected
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If you see an x-ray that shows a thin tibia bone with low density and multiple fractures and bowing, what would be your diagnosis?
Osteogenesis imperfecta
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Osteopetrosis is also called:
Marble bone disease
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Marble bone disease is also called what?
Osteoptrosis
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What is Osteopetrosis/Marble bone disease?
Abnormally thick, heavily mineralized brittle bones
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What disease has Abnormally thick, heavily mineralized adn brittle bones?
Osteopetrosis
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What is the cause of Osteopetrosis (Marble bone disease)
AD or AR inhereitance
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What complications are there with Osteopetrosis?
- Increased risk of fractures
- Due to less bone marrow space:
- anemia
- thrombocytopenia
- leukopenia
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What does anemia, thrombocytopenia and leukopenia occur in patients with Osteopetrosis?
Reduced bone marrow space
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What is osteoporosis?
Quantitative decrease in bone mass and density with normal amount of mineral and matrix
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What disease is a quantitative decrease in bone mass with normal amount of mineral in the matrix?
Osteoporosis
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What are some of the complications of Osteoporosis?
Increased risk of fractures
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What is Osteopenia?
quantitative bone loss seen on an x-ray
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What is the term for quantitaitve bone loss as seen on an X-ray?
Osteopenia
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Osteoporosis is localized or generalized?
Both
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What is a common cause of fracture in postmenopausal women?
Osteoporosis
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Why are post menopausal women susceptable to osteoporosis?
- Pm women have low estrogen
- Estrogen promotes bone formation and inhibits resorption
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Why does bone mass decrease in Osteoporosis?
Resorption is increased slightly
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When looking microscopically at a bone with osteoporosis, what would you see?
Bone trabeculae are thin and widely spaced
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If bone trabeculae are thina nd widely spaced, what is indicated?
Osteoporosis
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What are common fracture in PM women?
collapse of vertebral bodies and femoral neck fractures
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What are the primary etiologies of osteoporosis?
- Postmenopausal
- Senile
- Idiopathic
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what are the secondary etiologies of psteoporosis
- Cushings
- Hyperthyroidism
- Diabtes insipidus
- Sedentary
- RM
- Vit. D def.
- Alcohol
- anticonvulsants
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Which races are more susceptibel to osteoporosis and which are less?
- More: Caucasian and Asians
- Less: Africans
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Hip fractures occur commonly in what group and due to what?
Pm women with OP
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What is Rickets/Osteomalacia?
- Soft bones due to defective bone mineralization
- bone mass decreased , mineral content is normal
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What is the difference between Rickets and Osteomalacia?
Osteomalacia is in adults and Rickets is in children
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