Osteogenesis Imperfecta

Question 1

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

Answer 1

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

Question 2

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

Answer 2

Platybasia

Question 3

milder manifestations of osteogenesis imperfecta

Answer 3

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

Question 4

Standard measurement

Answer 4

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

Question 5

normal angle

Answer 5

123-143 degrees

Question 6

> 143 degrees

Answer 6

platybasia

Question 7

<125 degrees

Answer 7

basilar kyphosis

Question 8

1. Type 1
2. mode of inheritance

Answer 8

1. Non-deforming
2. AD-COLIA1 & XL-PL53

Question 9

1. Type 2
2. Mode of inheritance

Answer 9

1. Perinatal
2. AD, AR – COL1A1, COL1A2, CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, SERINF1, WNT1

Question 10

1. Type 3
2. Mode of Inheritance

Answer 10

1. Progressively Deforming
2. AD, AR - COL1A1, COL1A2, CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, SERINF1, WNT1

Question 11

1. Type 4
2. Mode of Inheritance

Answer 11

1. Moderate
2. AD, AR - COL1A1, COL1A2, CRTAP, FKBP10, SP7, SERPINF1, WNT1, TMEM38B

Question 12

1. Type 5
2. Mode of Inheritance

Answer 12

1. Calcification of Interosseous Membrane of Hypertrophic Callus
2. AD-IFITM5

Question 13

OI is classified in to 2 types

Answer 13

1. OI Cogenita
2. OI Tarda

Question 14

(presence of numerous fractures at birth)

Answer 14

OI Congenita

Question 15

(fractures occur after the perinatal period)

Answer 15

OI Tarda

Question 16

Shapiro’s modification of Looser classification (4 types)

Answer 16

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

Question 17

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

Answer 17

Congenita A

Question 18

(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.

Answer 18

Congenita B

Question 19

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

Answer 19

Tarda A

Question 20

First fracture after walking age; All patients usually ambulate.

Answer 20

Tarda B