A to Z of syndromes

A-Z of syndromes: Brittle bone disease

Part two of our series looking at disorders and diseases with common symptoms that constitute a syndrome

Brittle bone disease is also known as osteogenesis imperfecta (OI), Vrolik syndrome and Lobstein syndrome. The condition is not gender-specific and is present in all cultures.


 Brittle bone disease can cause blue discolouration of the sclera. Photo: SPL

As the name may indicate, people living with the disease have bones that are brittle and are prone to fractures.

The disease is caused by genetic mutations. The affected genes influence the way collagen in the connective tissue is produced.

It is not one condition as such, and the severity covers a wide trajectory, from mild to life-threatening or limiting.

Transmission, symptoms and diagnosis

The genetic modes of transmission vary, with some conditions being transmitted as an autosomal dominant and others as recessive traits.  

Antenatal detection is possible with ultrasound scanning. Multiple fractures and malformation should arouse suspicion, but the final diagnosis is made by analyses of collagen or DNA testing.  

The symptoms of brittle bone disease depend on the level of severity. Infants may be born with fractures sustained antenatally or acquired during delivery.

Until a diagnosis is made, frequent admissions to the emergency department with trauma in infancy may lead to referral to social services. This can be distressing for the family.  

Anomalies

The child’s IQ is unaffected, but anomalies may include:

  • Spinal curvature and hypotonic muscles, which can result in loose joints.
  • The sclera of the eyes may have an unusual blue colour. This is because the sclera is thin and the blood vessels colour the eye.
  • Deafness.  
  • Poor dental health because tooth structure and enamel deposition can be affected.
  • Severely diseased patients have respiratory problems because their lungs are poorly developed and multiple fractures of the ribs affect the pulmonary dynamic. In such instances, life is limited, and good palliative care can be the kindest option.
Management

Bisphosphonate, given intravenously, is more effective than oral administration. Orthopaedic surgery can insert intramedullary rods to strengthen bones and correct scoliosis.

Physiotherapy can be offered to improve muscle strength. Assessment and management of the child’s pain and provision of analgesics are nursing priorities when fractures occur. Other pain-relieving techniques include application of warmth, comfort and distraction.   

When fractures occur it is particularly important to stabilise with splinting and optimal positioning to minimise deformity. Avoidance of pressure ulcers due to immobility is also vital.  

Children’s nurses should create a positive environment to enhance quality of life, focusing on the child’s achievements and what is possible. 

Case study

Olga was the first child of Polish parents. Labour was prolonged, and after her birth she was found to have a fractured clavicle.

She fed well and was managed with paracetamol. No further problems were anticipated.

Olga learned to crawl and toddle, then had a cluster of fractures following minor injuries, resulting in emergency department visits.

During one visit, the sister on duty queried the number of visits the family had made and the explanations for the injuries. She then voiced her concern to the consultant in charge.

The mother was told about the concerns and that the information would be shared with the social services safeguarding team and why.

Olga needed inpatient management. A paediatrician noted her blue sclera and sought permission from the parents to perform a skin biopsy and take blood for a DNA sample.

A diagnosis of OI type 1 was made, which exonerated the parents and gave the opportunity to plan Olga’s care.

 


Further resources


Doreen Crawford is nursing and midwifery senior lecturer, De Montfort University, Leicester, and Annette Dearmun is divisional head of governance and nursing (children and women’s division), Oxford University Hospitals NHS Trust

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