Diseases Of Bone Flashcards

1
Q

Osteogenesis Imperfecta is also called ?

A

Lobstein’s disease
Brittle bone disease

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2
Q

Lobstein’s disease aka

A

Osteogenesis Imperfecta
Brittle bone disease

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3
Q

Gene mutation responsible for Osteogenesis Imperfecta

A

Type 1 collagen genes :
COL1A1
COL1A2

Also : CRTAP, LEPRE 1 , PPIB

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4
Q

Fetal collagen

A

Type 1 collagen in Osteogenesis Imperfecta that does not undergo maturation

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5
Q

Osteogenesis Imperfecta classification given by

A

Sillence

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6
Q

Genetic nature of Type 1 Osteogenesis Imperfecta

A

Autosomal Dominant

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7
Q

BRUCK Syndrome

A

Infantile Osteogenesis Imperfecta (since birth)

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8
Q

Blue sclera seen in.

A

OSTEOGENESIS IMPERFECTA.

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9
Q

OPALESCENT TEETH seen in

A

OSTEOGENESIS IMPERFECTA.

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10
Q

In skull: Wormian or Sutural bones seen in

A

Osteogenesis imperfecta.

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11
Q

Pulp obliteration seen

A

Osteogenesis imperfecta.
and
Dentigerous Imperfecta

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12
Q

OSTEOPETROSIS aka

A

MARBLE BONE DISEASE

ALBER SCHONBERG DISEASE

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13
Q

ALBER SCHONBERG DISEASE aka

A

MARBLE BONE DISEASE

OSTEOPETROSIS

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14
Q

MARBLE BONE DISEASE aka

A

OSTEOPETROSIS

ALBER SCHONBERG DISEASE

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15
Q

CLEDO CRANIAL DYSPLASIA aka

A

Marie- Sainton’s disease.

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16
Q

Marie- Sainton’s disease. Also

A

CLEDO CRANIAL DYSPLASIA

17
Q

Gene responsible for CLEDO CRANIAL DYSPLASIA

A

CBFA1 or RUNX2

18
Q

Arnold Head apperance seen in

A

CLEDO CRANIAL DYSPLASIA

19
Q

IDIOPATHIC
OSTEO SCLEROSIS aka.

A
  1. Dense bone Island
  2. Bone eburnation
  3. Bone whorl
  4. Bone scar
  5. enostosis
20
Q

Blue sclera not seen in which type of osteogenesis imperfecta ?

A

Type 4 osteogenesis imperfecta