Osteogenesis Imperfecta (OI)

Ahmad Ichwan Luthfi

Metta sari Septiany Djali

Pembimbing
dr.Widyatmiko A Putro ,SpOT
 Osteogenesis Imperfecta /OI ??

Osteogenesis Imperfecta :
Diagnosis and Treatment
from Journal of the American
Academy of Orthopaedic Surgeon
• Osteogenesis imperfecta is a heritable
disorder characterized by extremely fragile
bones, blue sclerae, dentinogenesis
imperfecta, hearing loss and scoliosis

• OI is a heritable disease that is distinguished

by four features that present in the following
causal relationship : genetic disorder, collagen
defect, bone fragility, and frequent of fracture
 Etiology
Type I collagen  most important structural
protein of the bone, skin, tendons, dentin and
sclera

Genetic mutation  alter the triple helix via

subtituion of glicine with another amino acid 
alter molecule of collagen
• Recently researcher described the possible
genetic mechanism (CRTAP)

Gen CRTAP  encode cartilage-associatted protein

which is essential for postranslational modification
of type I and II collagen

Mutation cause alterations in the folding of the

triple helix as well as excess modifications of the
helical regions of the chain
 Clinical Manifestations
• Muskuloskeletal system
-the primary clinical manifestation :
a. Multilevel fracture that causes limb deformation
b. Bone fragility  - frequent fracture
(vicious cycle) - skeletal deformities

Musculoskeletal deformities are induced by defect

in type I collagen
• Ekstrasekeletal manifestation
-Blue sclerae likely are the best known
ekstraskeletal anomaly in patient wit OI 
althoug may be an inherited condition not
associated with OI --> important sign

-Dentinogenesis imperfecta  causes teeth to

appear brownish or bluish , crack easily

-Hearing loss
 Classification
Silence et al
Type I Mildest form, lifelong blue sclera,
inheritance is autosomal dominant
Type II Lethal
Type III Severe,

Type IV Intermediate, inheritance is autosomal

dominan
 Diagnosis
• Clinical and radiologic examination may be
unsatisfactory  dificulity in diferrentiating
between nonaccidental injury (NAI) and OI
• Marlowe et al  published the result of
laboratory testing in 183 patients with
suspected NAI who refereed ny the court to
confirm or exclude the diagnosis of OI  10
patient diagnosis OI based on clinical data 
the biochemical and genetic examination were
normal in 4 patient  only 6 had been
clinically diagnosed previously
 Medical treatment (MT)
MT for OI is symptomatic not curative

Biphosphonate Therapy  the primary effect –osteoclast apoptosis

Biphosphonate of absorbed 20%-80% is incorporated into the skeleton

Earliest reponses to treatment comes 1 to 6 week after the initiation of

the terapy :
-reduction in chronic bone pain,
-ambulation scores improve,
-the incidence of fracture decrease,
-and the thickness of the cortex of the long bones increase
In a partially randomized study diMeglio and
peacock compared efficacy of oral alendronate
with intravenous pamidronate  that oral
alendronate is absorbed at a level of 0,5% and
that it has 50% bioavailability and five times
greater potency than pamidronate

Evidence suggest that duration of treatment must

be limited to approximately 2 years
• Plotkin et al  evaluated the effect of
pamidronate versus a control group in patient
with OI who were younger that age 3 years 
age at the beginning therapy 2,3-20,7 months

• Result ;
-bone density increased
-patient younger than 3 years seemed to respond to
treatment more quickly than did older childre
-bone pain dissapeared
-fracture rate disssapeared
 Ostenonecrosis of the jaw (ONJ)
• Is a condition associated with bisphosphonate
therapy

• ONJ have been reported in patient :

-with cancer who are receiving intravenous
biphosphonate to reduce skeletal complication
-without cancer who are receiving oral
biphosphonate therapy , for example :
osteoporosis
• In a review of 63 patient who presented with
ONJ, Ruggiero et al reported --. The only
common clinical feature share by all patient
was chronic biphosphonate treatment
 Surgical Treatment
• Internal fixation of long bones  most
common surgical treatment

• The goal ?  to minimize the incidence of

fracture, restore the bone axis and avoid bone
bowing
• Major complication :
-internal migration with fracture
-injury of the physiss
-bent rod
-rod displacement of joint
• Minor complication :
-internal migration without fracture
-superficial infection