MMB (048) Normal and Abnormal Bone Growth Flashcards

(34 cards)

1
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2
Q

which is wooven and lamelar bone ?

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5
Q

explain Intramembranous ossification in 4 points

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6
Q

Bones formed by Intramembranous Ossification ?

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7
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Bones formed by Endochondral Ossification ?

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8
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9
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10
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11
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13
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18
Q

• The most common disease of the growth plate and the major cause of dwarfism ?

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Achondroplasia

19
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Inheritance of Achondroplasia ?

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autosomal dominant

20
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Pathogenesis of Achondroplasia ?

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-In normal development , FGFR3 has a negative regulatory effect on bone growth.

In achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones

21
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Fate of Homozygous infants with achondroplasia gene mutation ?

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Homozygous infants normally die at birth or soon after from respiratory insufficiency due to a small chest cavity

23
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Morphologic Features of Achondroplasia ?

24
Q

The genes that code for the α1 and α2 chains of type 1 collagen ?

A

COL1A1 and COL1A2

25
Other organs rather than bone affected in Osteogenesis imperfecta ?
joints, eyes, skin and teeth are affected as well
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The spectrum of severity for Osteogenesis imperfecta ?
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Bone microscopy of Osteogenesis imperfect-a patient ; describe.
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Clinical picture of Cretinism ?
• Disproportionally short limbs • Large head due to delayed closure of fontanelles • Mental impairment
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Cause of cretinism ?
• Results from maternal iodine deficiency
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Acromegaly – signs & symptoms ?
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