Franklin Pito Jella

OSTEOGENESIS IMPERFECTA: Pembimbing: dr Su Djie To

DIAGNOSIS AND TREATMENT Rante, M. Biomed Sp.OT
 LEARNING OBJECT
Introduction
Etiology
Pathogenesis
Clinical feature
Classification
Imaging studies
Management
INTRODUCTION
Osteogenesis imperfecta is a heritable disorder characterized by
extremely fragile bones, blue sclerae, dentinogenesis imperfecta,
hearing loss, and scoliosis.
Many synonyms have been used to describe OI, including fragilitas ossium,
osteopsathyrosis, Lobstein’s disease, and Vrolik’s disease.
CLINICAL MANIFESTATIONS
Musculoskeletal System
Multilevel fracture that causes limb
deformation
Bone tissue anomalies are the most
visible manifestation of OI
Extraskeletal Manifestations
Blue sclerae
Dentinogenesis imperfecta
Hearing loss
Subcutaneous hemorrhage
Cardiovascular disease (eg, mitral valve
prolapse, aortic regurgitation) may be
present
Metabolic anomalies
 ETHIOLOGY
Inherited or spontaneous genetic mutations of genes COL1A1 and COL1A2 are
known to be the basic anomaly that alters the collagen synthesis and structure.
CLASSIFICATIONS
 DIAGNOSIS
Biochemical and genetic examination based on the study of type I collagen and DNA
may be necessary for elucidating the diagnosis.
MEDICAL TREATMENT
 SURGICAL TREATMENT
Internal fixation of long bone
1. Nail Fixation
2. Rod Fixation
ASSOCIATE
D
CONDITION
S
 ASSOCIATED CONDITIONS
Spine Deformity
The incidence of scoliosis in the
population with OI varies from 39% to
80%.46 Studies have shown that vital
capacity falls to <50% in patients with a
scoliotic curve >60°. Widmann et al46
studied 15 patients with OI
Limb Lengthening
In 1996, Ring et al50 reported on the
use of the Ilizarov method for limb
lengthening in six adults with type I OI.
The average lengthening was 6.6 cm
TERIMAKASIH