Osteogenesis Imperfecta

Dr L Banza
7-9 Oct 2022
Introduction

- Common genetic disorders

- 1 in 20,000

- Defects of type I collagen

Pathology

Reduction in the total

amount of type I collagen
Clinical features

Depend on the type :

- # after minor trauma
- Thin skin
- Hypermobile joints
- Blue & grey sclerae
- Carious teeth
X ray

- Generalized osteopenia
- Thinning of long bones
- Bones are deformed or bent
Diagnosis

- Clinical & radiological features

- R/o hypophosphatasia ( SAP is low ). Normal range: 44 to 147

IU/L
Classification

- Sillence
1. O I type I ( mild )
- common ( 50% )
- # occur at 1-2 yrs of age
- Sclerae deep blue
- Teeth normal / healing good / less deformities
2. O I type II ( lethal )
- prognosis poor
- # ( intra-uterine / neonatal )
- Large skull
- Grey sclerae
- Rib # leading to respiratory difficulty
3. O I type III ( severe deformity)
- Classic but not most common
- Marked deformities & kyphoscoliosis
- Marked joint laxity
- Poor quality of life
4. O I type IV ( less severe )
- Uncommon : < 5%
- # are frequent in childhood
- Sclerae pale blue or normal
- Survive to adulthood
- Deformities are common
Management

- No medical treatment
- Prevention of # with orthoses
- Treat # mainly non operatively
- Long bone deformities
and # : op correction
- Rush rods

- Telescopic nails

- Spinal deformity : fusion

or op instrumentation
Telescoping nails
Osteogenesis Imperfecta

- Genetic problem, 4 types family dynamics

- Defective collagen no cure
- Short stature self image
- Frequent fractures learning to cope
 Thank you

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