Osteogenesis Imperfecta
DR SHAFI SARKER
ASSISTANT REGISTRAR(SURGERY)
Osteogenesis imperfecta
Brittle bone disease/ Fragilitas ossium
Osteogenesis imperfecta(OI) represents a spectrum of conditions linked by a qualitative
and/or quantitative abnormality of collagen production.
Relatively common connective tissue disorder with an incidence of approximately
1:20000 live births.
Pathophysiology
Mutations of COL1A1 and COL1A2 genes(mostly AD, fewer AR)
quantitative and qualitative abnormalities of
type 1 collagen production.
Tissues contain Type 1 collagen – bone, ligament, teeth, sclera.
Results in – structurally incompetent bone, vulnerable to fracture, secondary deformity
and joint laxity.
Clinical Features
Usually apparent at birth or in childhood, more mild forms may not become apparent until
adulthood.
Common finding- Recurrent fractures at multiple sites often with trivial trauma.
Bone may break easily but it heals promptly and well. Progressive long bone deformity is
a frequent consequence.
Classical clinical triad – fragility of bone, blue sclera and deafness.
Clinical Features
Dental abnormalities
Blue sclera
Scoliosis and kyphosis
Non specific bone pain
In later life, joint degeneration secondary to long standing malalignment
Combination of protrusion, fracture and abnormal hip mechanics frequently results in
osteoarthritis, requiring total joint replacement.
Classification
SILLENCE classification- Four clinical types
Type 1 is most common and this is the mild form of this disease.
Two forms- Congenita(life expectancy low)
Tarda (life expectancy high)
Diagnosis
Diagnosis tends to be made on clinical and radiological grounds
DNA analysis can be used
Collagen analysis of dermal punch biopsies is also used to confirm diagnosis in some
cases
Radiological features
Cortices of long bones are often thin and demonstrate features of generalized demineralization.
Severe forms- bones are thick and short with multiple fractures and hyperplastic callus formation.
Skull is osteopenic and multiple intrasutural wormian bones are present.
Multiple rib fractures.
Protrusio acetabuli and proximal femoral shepherd’s crook deformity
Multiple areas of radiolucent scalloping with radio-dense rims with the appearance of popcorn can be seen
in the metaphysis
Management
Counseling is necessary for couples who have a family history of osteogenesis imperfecta.
Involves physiotherapy, walking aids and Orthotics to maximize mobility.
Bisphosphonates have been used to increase cortical thickness.
Surgical intervention to correct deformity and stabilize load bearing bones generally
utilizes intramedullary fixation systems.
Take home message
Connective tissue disorder
Defective Type 1 collagen production
Fragility of bone, blue sclera, poor teeth, deafness.
In severe forms frequent fractures lead to progressive deformity which in turn increases fracture risk.
Systemic treatment with Bisphosphonates reduces fructure rate.
THANK YOU
