OSTEOGENESIS IMPERFECTA

Adinda Widyantidewi03011005

Osteogenesis Imperfecta (OI)

• Osteogenesis imperfecta (OI) is a genetic disorder in which bones

break easily.

Osteogenesis imperfecta can present at any age, although the more severe forms tend to become evident at a younger age.

causes

• defective synthesis of type

I collagen

&

pathology

• There’s an error synthesis of type 1 collagen, more than 150 mutations in

pro-collagen α1 & α2 . Causing the decreased external bone volume and tensile strength of lamellar bone and

osteopenia. Make the bones break easily and easily fracture,this disorder interferes

the bone growth and can leads to multiple fractures.

Type of OI

• Type I the most common form• Type II lethal perinatal• Type III progressive deforming• Type IV similar to type I

symptoms

• Blue tint to the whites of their eyes (blue sclera)

• Multiple bone fractures• Early hearing loss (deafness)• Bowed legs and arms• Short stature

diagnosis

• A physical examination• Skin punch biopsy• chorionic villus sampling• Ultrasound• X-ray

Theraphy & treatment

• Bisphosphonates• Low impact exercises• Surgery• Crutches• Wheelchairs• A social worker or psychologist

THANKYOU :)