MMB (048) Normal and Abnormal Bone Growth Flashcards

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2
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which is wooven and lamelar bone ?

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5
Q

explain Intramembranous ossification in 4 points

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6
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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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18
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• 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

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23
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Morphologic Features of Achondroplasia ?

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24
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The genes that code for the α1 and α2 chains of type 1 collagen ?

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COL1A1 and COL1A2

25
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Other organs rather than bone affected in Osteogenesis imperfecta ?

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joints, eyes, skin and teeth are affected as well

26
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The spectrum of severity for Osteogenesis imperfecta ?

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29
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Bone microscopy of Osteogenesis imperfect-a patient ; describe.

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30
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Clinical picture of Cretinism ?

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• Disproportionally short limbs

• Large head due to delayed closure of fontanelles

• Mental impairment

31
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Cause of cretinism ?

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• Results from maternal iodine deficiency

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33
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Acromegaly – signs & symptoms ?

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34
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