Osteogenesis

imperfecta

By Dr.Naveed khan Mphil scholar oral

pathology
Osteogenesis imperfecta

● It's a genetically heterogeneous group

of collagen disorders characterized by
bone fragility
● Also known as brittle bone disease
/fragilitas ossium
● Equal frequency in male and females
Etiology
● Osteogenesis imperfecta (O I) results from
mutation in the genes COL1A1 and COL1A2
(chromosome 17 and 7 respectively)
● These genes code for normal type 1 collagen
● Disorder is manifested in tissue in which the
principal matrix is collagen type 1
● These are mainly bone, ligaments, sclera,
dentin,skin and it is a major component of
normal osteoid.
CLINICAL FEATURES

O I is classified into 4 types according to onset

and lethality

1. Neonatal lethal - (in 10%patients)

a. Present during gestation and delivery
b. Multiple fractures during birth
c. Child usually die due to inability to breath
due to involvement of ribs and diaphragm
Clinical features

● 2.SEVERE NON-LETHAL
a. Occurs in 20 % of patients
b. Multiple fractures at birth
c. Bone fragility and generalised bone
deformities
d. Blue sclera
e. Dentinogenesis imperfecta present
Clinical features

● 3..Moderate and deforming

a. Lees severe than other 2 types
b. High incidence of blue sclera
c. High incidence of Dentinogenesis
imperfecta
Clinical features

● 4.. Mild non deforming

a. Effects 60% of patients
b. Little evidence of disease at birth but
appears when child begins walk
c. Bone fragility declines toward Puberty
d. Some degree of blue sclera
e. Dentinogenesis imperfecta in 25% patients
f. 70%patients suffer hearing impairment
Radiographic features

● Short deformed extremities with large

CYSTLIKE RADIOLUCENCIES
● Midshaft areas are narrowed
● Bulbous metaphyseal and epiphyseal zones
● Multiple fractures and healed fracture
● Wormian bones present in skull
● Wormian bones are small bones found with in
sutures and fontanelles of skull
● Considered a simple anatomical variant.
● Nonetheless, they are more commonly seen in
patients with osteogenisis imperfecta.
Radiographic features

● Spinal scoliosis (sideways curvature of the

spine)
● Dentinogenesis imperfecta with Bulbous
crowns
● Teeth may have obliterated pulpal chambers

and shortened roots

Histopathology

• Thinned cortices composed of immature woven

bone
• Increased number of osteoclasts, osteocytes and
mineral content
Diagnosis

1. Family history
2. Clinical presentation of patients
3. Biochemical testing ( collegen test)
4. Radiographic examination
Management and treatment

● No definitive cure of O I
● Goal of treatment is to prevent fractures and
bone deformities
● Medications
● Rodding is done to prevent deformities and
support of long bone
● Physiotherapy
Continued

● Surgery for treatment of bowing bone

● Wheelchair for disabled patients
● Dental prosthesis like braces and splints
● Assistive devices for support and positioning
● Plastic and reconstructive surgeries.
● Medical treatment
● Bisphosphonates that strengthen the
bones (Alendronate, Ibandronate)
● Analgesics that reduse pain (ibuprofen)
Self care
• Practice low impact exercises to help
build the bones
• Take vitamine D and Calcium
supplements.
• Mental health counselling.
● Life expectancy of someone with OI
● Life expectancy with OI is not confirm
● More than half of the cases die before
the age of 10 years
● Those who reach more than 10 years
have better prognosis.
O I Patient
Blue sclera
Thank you... .! 🌸