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ORS 3 > Osteogenesis Imperfecta > Flashcards

Osteogenesis Imperfecta Flashcards

1
Q
  1. A genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen.
  2. Other name of this condition?
  3. S/Sx:
  4. Dx
  5. Tx
A
  1. Osteogenesis Imperfecta
  2. Brittle Bone Disease
  3. Childhood fx, deafness, blue sclera, short stature, valvular insufficiencies, aortic root dilation
  4. FMHx, Hx of multiple fx in childhood, X-ray, platybasia of the skull
  5. Gonadal Hormones, Biphosphonates, Teriparatide
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2
Q

Characterized by abnormal flattening of theskull baseas defined as abase of skull angleover 143º.

A

Platybasia

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3
Q

milder manifestations of osteogenesis imperfecta

A
  1. generalized laxity,
  2. easy bruising
  3. hernias
  4. excess sweating
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4
Q

Standard measurement

A
  1. the angle formed by a line joining the nasion with the center of the pituitary fossa
  2. a line joining the anterior border of the foramen magnum with the center of the pituitary fossa
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5
Q

normal angle

A

123-143 degrees

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6
Q

> 143 degrees

A

platybasia

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7
Q

<125 degrees

A

basilar kyphosis

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8
Q
  1. Type 1
  2. mode of inheritance
A
  1. Non-deforming
  2. AD-COLIA1 & XL-PL53
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9
Q
  1. Type 2
  2. Mode of inheritance
A
  1. Perinatal
  2. AD, AR – COL1A1, COL1A2, CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, SERINF1, WNT1
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10
Q
  1. Type 3
  2. Mode of Inheritance
A
  1. Progressively Deforming
  2. AD, AR - COL1A1, COL1A2, CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, SERINF1, WNT1
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11
Q
  1. Type 4
  2. Mode of Inheritance
A
  1. Moderate
  2. AD, AR - COL1A1, COL1A2, CRTAP, FKBP10, SP7, SERPINF1, WNT1, TMEM38B
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12
Q
  1. Type 5
  2. Mode of Inheritance
A
  1. Calcification of Interosseous Membrane of Hypertrophic Callus
  2. AD-IFITM5
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13
Q

OI is classified in to 2 types

A
  1. OI Cogenita
  2. OI Tarda
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14
Q

(presence of numerous fractures at birth)

A

OI Congenita

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15
Q

(fractures occur after the perinatal period)

A

OI Tarda

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16
Q

Shapiro’s modification of Looser classification (4 types)

A
  1. Congenita A
  2. Congenita B
  3. Tarda A
  4. Tarda B
17
Q

(Incompatible with life) - Sustain fractures in utero or at birth; Radiographically, present with crumpled long bones, crumpled ribs, rib cage deformity, and fragile skull

A

Congenita A

18
Q

(Compatible with survival) -Sustain fractures in utero or at birth; Radiographically, present with more tubular long bones with funnelization in the metaphysis, normally formed ribs, and no rib cage deformity.

A

Congenita B

19
Q

Fractures before walking; Age of onset of fractures - not prognostic for ambulation.

A

Tarda A

20
Q

First fracture after walking age; All patients usually ambulate.

A

Tarda B

ORS 3 (15 decks)

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