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*Paediatric - MSK > Osteogenesis imperfecta > Flashcards

Osteogenesis imperfecta Flashcards

1
Q

What is Osteogenesis imperfecta?

A
  1. A form of Osteodysplasia which is a skeletal dysplasia in which there are abnormalities in type 1 collagen
    - also known as ‘Brittle bone disease’
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2
Q

How is osteogenesis imperfecta acquired?

A
  1. The disorder is usually inherited in an autosomal dominant fashion but 35% of cases result from sporadic mutations
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3
Q

What is the 1 major feature of osteogenesis imperfecta?

A

‘Fractures from minimal trauma or history of multiple fractures’

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4
Q

Clinical features of osteogenesis imperfecta - Head and face

A
  1. Wormian bones - peices of bone that occur within the sutures of the cranium
  2. Blue sclera
  3. Osteoporotic bone and fractures
  4. Dentinogenesis imperfecta - discoloured yellow/brown or transluscent teeth
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5
Q

Clinical features of osteogenesis imperfecta - body and limbs

A
  1. Short stature
  2. Scoliosis
  3. Increased laxity of ligaments and skin
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6
Q

What is the pathogenesis of Osteogenesis imperfecta - Type 1

A

Normal collagen but inadequate amount

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7
Q

How severe in osteogenesis imperfecta type I?

A

Mild

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8
Q

What are the characteristics of oesteogenesis imperfecta - Type 1

A
  1. Fewer fracture than other types
  2. Often develop hearing loss
  3. Blue sclera
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9
Q

What is the pathogenesis of osteogenesis imperfecta - Type II

A

Abnormal collagen and inadequate amout

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10
Q

How severe in osteogenesis imperfecta type II?

A

Lethal

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11
Q

What are the characteristics of oesteogenesis imperfecta - Type 2

A
  1. Most die antenatal or new born period

2. Blue sclera can be very dark

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12
Q

What are the characteristics of oesteogenesis imperfecta - Type 3

A

Defective collagen - adequate amount

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13
Q

How severe in osteogenesis imperfecta type III?

A

Severe

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14
Q

What are the characteristics of oesteogenesis imperfecta - Type 3

A
  1. Fractures from birth in utero
  2. Severe bone deformity
  3. Blue sclera
  4. Dentinogenesis imperfecta
  5. Often hearing loss
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15
Q

How is osteogenesis imperfecta diagnosed?

A

Diagnosed based on clinical finding and is confirmed on genetic investigations

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16
Q

Mx of osteogenesis imperfecta

A
  1. Splints for fractures
  2. Avoid high impact activity
  3. Oral bisphosphonates

*Paediatric - MSK (16 decks)

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