• Also called ‘Brittle Bone Disease’
  • This is a generalised, predominantly collagen-tissue disorder
  • Leads to abnormal bone matrix and reduced bone strength causing bone fragility, fracture risk,
  • bone deformity and linear growth deficiency



  • Five major types (1 to 5)
  • Autosomal dominant and recessive mutations noted

Clinical findings

  • Always differentiate it from Non-Accidental Injury

Skeletal deformities

  • Short stature
  • Scoliosis/ Kyphosis
  • Chest wall deformities(pectus excavatum/ carinatum)

Eye manifestation

  • Blue sclerae

Lung problems

  • Vulnerable to lung problems asthma and pneumonia.

Cardiac problems

  • Increased risk of cardiac valvular disease
  • Commonest is called mitral valve prolapse.

Neurological problems

  • Macrocephaly.
  • Hydrocephalus
  • Basilar invagination

Abnormal blood coagulation

  • Increased vascular fragility
  • Reduced clotting factors
  • Abnormal platelet function


  • Periodontitis
  • Dentinogenesis imperfecta


  • Progressive hearing loss in young adulthood


  • The connective tissue problem in OI can extend to the eyes



Possible to diagnose solely on clinical features.

Biochemical (collagen) or molecular (DNA) tests can help confirm a diagnosis

Radiological features

  • Multiple fractures of various ages
  • Diaphyseal and vertebral fractures
  • Rib fractures
  • Callus formation.
  • Osteopenia
  • Bowed long bones
  • Thin and under-tubularized long bones
  • Vertebral compression
  • Narrow thoracic apex

Low Bone density measurement

Histomorphometry (measurement of shape and form of bone).

Bloods-Calcium, phosphate, Low Serum 25-hydroxyvitamin D


  • The main prenatal screening method



  • No cure for OI.
  • Treatment depends on severity of the disease and the age of the patient.
  • Multidisciplinary team
  • Orthopedic, endocrinologist, pulmonologist, neurologist, surgeon, radiologist and nutritionist etc.
  • Medical management includes drug therapy; orthopaedic treatment for fractures and deformity stabilisation; rehabilitation for muscular strengthening and walking strategy
  • Directed towards preventing or controlling the symptoms, maximizing independent mobility, and developing optimal bone mass and muscle strength


  • Bisphosphonates
  • They slow the loss of existing bone.
  • Reduce vertebral compressions and some long bone fractures
  • Prior to starting a bisphosphonate, maximise calcium and vitamin D supplementation, as sufficient concentrations are necessary for an optimal treatment response

Follow up

  • Hearing tests and MRI of the hearing canals
  • Eyes exams are recommended every 2 to 3 years


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