• 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

 

CLASSIFICATION

• 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

• Periodontitis
• Dentinogenesis imperfecta

Hearing

• Progressive hearing loss in young adulthood

Vision

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

 

Diagnosis

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

Ultrasound

• The main prenatal screening method

 

TREATMENT

• 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

Medication

• 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