Osteogenesis Imperfecta CAT Flashcards
1
Q
What is osteogenesis imperfecta (OI)?
A
- Rare congenital disorder of collagen synthesis
- Affects all connective tissue in the body
- Reduces production of collagen 20-50%
2
Q
Etiology of OI
A
- Autosomal dominant or autosomal recessive trait
- 25% of OI is from spontaneous mutation of the genes
3
Q
Types of OI
A
- Type 1
- Type 2
- Type 3
- Type 4
4
Q
Type I OI
A
- child has near normal growth
- Frequency of fractures usually ceasing after puberty
- Mild/mod fragility, most times w/o deformity
5
Q
Clinical presentation w/ type I OI
A
- Blue sclera
- Easy bruising
- Triangular face
- Possible hearing loss
6
Q
Type II OI
A
-Most severe form
- Child dies in utero or by early childhood
- Significant fragility of connective tissue
- Experiences multiple fractures
- extreme deformity
- Soft skull
7
Q
Type III OI
A
- Significant growth retardation
- Progressive deformities
- Ongoing fractures
- Severe osteoporosis
- Triangular face
- Blue sclera
- Significant limitations w/ functional mobility
8
Q
Type IV OI
A
- Mild/mod fragility (greater than type I)
- Osteoporosis
- Bowing of long bones
- Barrel shape of rib cage
- Possible hearing loss, brittle teeth
- Near normal sclera
- Near normal life expectancy
9
Q
Imaging/labs for OI
A
- Skin biopsy to examin collagen
- X-rays and bone scans to examine deformities and old fractures
- Bone densitometry for bone mass
10
Q
Additional findings w/ OI
A
- Delayed developmental milestones b/c of immobilizations, hypermobility/laxity, and poorly developed muscles
11
Q
What might ambulation look like for type I OI?
A
Most will become community ambulators
12
Q
What might ambulation look like for type IV OI?
A
- About half are household ambulators
- 1/4 are community ambulators
13
Q
What might ambulation look like for type III OI?
A
1/4 become household ambulators
14
Q
Medical management for OI
A
- The goal is to control symptoms
- Optimize independence w/ mobility, bone mass, strength
- Prevent fractures and deformities
15
Q
Pharmacological management for OI
A
- Bisphosphonate druge to increase bone density
- DO NOT GIVE STEROIDS, can compromise connective tissue
