Osteogenesis imperfecta Osteogenesis imperfecta

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About the author About the authors

Dr Jenny Ault
Consultant Paediatric Rehabilitation Specialist
and Senior Staff Specialist
Department of Paediatric Rehabilitation
The Children’s Hospital at Westmead

Professor David Sillence
Head, Connective Tissue Dysplasia Clinic and
Professor of Medical Genetics
Academic Department of Medical Genetics
The Children’s Hospital at Westmead

Ms Verity Pacey
Paediatric Physiotherapist
Department of Physiotherapy
Connective Tissue Dysplasia
Management Service
The Children’s Hospital at Westmead
NSW Australia

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What is osteogenesis imperfecta?

Osteogenesis imperfecta, commonly abbreviated as OI, refers to a group of disorders with increased likelihood to fracture throughout life. There are many different genetic types of OI.

Due to the fractures, students with osteogenesis imperfecta may have their schooling and learning disrupted at times. Support and assistance and flexibility with learning programs can be very important. The tendency to fracture will vary in children with osteogenesis imperfecta. Within a year, fractures may occur occasionally or multiple times.

Fractures can occur in any bone. Finger, arm and leg fractures occur more often than rib or skull fractures. Crush fractures may occur in the vertebral bones in the spine. The increased likelihood of fractures results from children with osteogenesis imperfecta having:

  • more brittle bones than usual and/or

  • an increased tendency to develop osteoporosis (low bone density).

Osteoporosis can be documented in children by bone densitometry using a machine calibrated for children. Fortunately the osteoporosis in osteogenesis imperfecta can now be treated very effectively with medication.

All children in New South Wales can be referred by their general practitioner for assessment to the centre of expertise (eg the Connective Tissue Dysplasia Clinic at The Children’s Hospital at Westmead, or similar) and most children with osteogenesis imperfecta are referred.

The different types of osteogenesis imperfecta are numbered in Roman numerals and, for practical purposes, types I, III, IV, and V are encountered in school-aged children. The numerals do not correspond to severity but to the order in which each disorder was named.

There are also several other very rare types of osteogenesis imperfecta with specific names, eg Bruck type, Cole-Carpenter type and several types in which the child has a visual impairment as well as a tendency to fracture.

A classification for grading severity, eg mild, moderate, and severe osteogenesis imperfecta, has been adopted. This can be a useful tool to assist communication between health professionals, parents and school staff.

  • No fracture, or only one fracture per year

  • Straight long bones, ie no deformity.

  • Minimal vertebral crush fractures.

  • No chronic bone pain, or minimal pain controlled by simple medications

  • Normal or near normal growth and height.

  • Fully mobile (other than at times of acute fracture).

  • Does not miss school due to pain or fatigue.

  • Children with Mild OI most often have OI type I or IV.

  • More than one fracture per year.

  • Bowing/bending of arm or leg bones due to recurrent fractures.

  • Vertebral crush fractures

  • Evidence of osteoporosis on testing

  • Absent from school more than five days per year due to the OI.

  • Progressive deformity of long bones and spine

  • Multiple vertebral crush fractures

  • Marked short stature

  • Children with severe OI usually have OI type III, but rarely may have OI type IV, or OI type I.

Associated features in some, but not all, children with osteogenesis imperfecta include:

  • Rarely, children with osteogenesis imperfecta are very photophobic and will need to be allowed to wear tinted glasses or sunglasses when outside.

  • Visual refractive errors, such as short sightedness, may be present as in any other student.

  • There are several very rare types of osteogenesis imperfecta/syndromes with osteoporosis in which the OI is complicated by blindness.

In some children with osteogenesis imperfecta, the teeth are a yellowish colour due to affected dentine (dentinogenesis imperfecta), and wear or chip much more easily. Present practice is to crown the molar teeth with stainless steel and/or coat the teeth with a hard plastic (composite).

These children need extra dental care and may need time off school for dental appointments.

  • A high percentage of children with mild to moderate osteogenesis imperfecta (those with very blue sclerae) will develop hearing loss, but this is rare before adult life.

  • There is some evidence that high noise level leads to microfractures in the tiny bones in the ears which predispose children to this hearing loss. Hearing protection is very important.

  • A percentage of children develop episodic vertigo, an unpleasant feeling that their external world is moving or tumbling.

Many children with osteogenesis imperfecta are shorter than their peers. If the child’s trunk is very short adjustments may be needed, eg attending to the height of the school desk and other working benches. Adjustments can include ‘common sense’ adaptations such as a step to reach the bubblers or toilets.

  • Deformity in arms, legs and spine may develop and become more marked during childhood. The osteogenesis imperfecta management team, including orthopaedic surgeons, makes every effort to prevent deformity occurring.

Back pain in children with osteogenesis imperfecta should be taken seriously and teachers need to report concerns about pain to the parent/carer as this can interfere with concentration and may affect school academic performance.

All varieties of osteogenesis imperfecta are heritable. Many children with osteogenesis imperfecta have a parent with OI, but a proportion of school-aged children with OI are the first ones affected in their family (sporadic inheritance).

The extent of bone fragility is hard to predict as it varies in any child depending on his or her underlying type of osteogenesis imperfecta, mobility, activities, personality (adventurous or cautious), treatment stage and age. The frequency of fractures appears to increase in the first year or two after preschool or school entry. Generally, there are fewer fractures after puberty.

Children in this group may also have joint hypermobility (very flexible joints) and a tendency to bruising.


Several medications are used and these are given either intravenously in hospital or as tablets which can be taken at home.

Where the bone density is very low, intravenous infusions of bisphosphonates (Pamidronate or Zometa) given every 1–3 months in hospital, may significantly improve bone density, activity levels, and energy, although the tendency to fracture is still present. There are very few side effects.

Once the fracture has been set and the student is ready to attend school again he or she may need to take an analgesic for pain. The procedures for the administration of prescribed medication in schools in schools should be followed.

Deformity in arms, legs and spine may develop and become more marked during childhood. The osteogenesis imperfecta management team, including orthopaedic surgeons, makes every effort to prevent deformity occurring.

  • Strategies include:

    • surgical straightening of the bones with rods

    • physiotherapy

    • occupational therapy.

  • Upper limb deformity occurs less commonly but is more challenging to correct.

  • Curvature of the spine may develop during childhood and progress rapidly during adolescence. This may need bracing or complex spinal surgery.

  • Splints or braces may be needed following a fracture, if a plaster is not sufficient.

  • Wheelchairs may be needed temporarily following a leg fracture or for school activities that involve walking over long distances or that cause excessive fatigue. Some children have recurrent fractures or deformity in their lower limbs and need to use a wheelchair almost all the time.