Imagine being called to see a 10-year-old girl who is unable to get up after a fall from standing height. On arrival, you find a girl who is lying on the living room floor, crying and guarding her right leg. She was simply reaching for a toy on a shelf when a book fell out and she lost her balance, falling to the floor. 

You know that a typical kid will probably bounce back with nothing more than bruised pride after such a fall. Her mom tells you her daughter has Osteogenesis Imperfecta Type III and to please be careful with her. 

Overview of OI

Osteogenesis imperfecta (OI) is a genetic disease that encompasses a group of inherited collagen production disorders that result in bone fragility, among other abnormalities. It is transmitted mostly via autosomal dominant transmission, meaning that only one parent needs to transmit the gene, but it can also be autosomal recessive (both parents must be carriers) and rarely X-linked. It occurs in about 1/10,000 births.

Collagen is a protein necessary for bone formation, growth and maintenance, and provides the essential framework for bones. Calcium and other minerals crystallise on this collagen framework. In OI, there may be defects in collagen production, folding, stability, processing, or secretion, as well as osteoblast malfunction or defective bone matrix mineralization.

Types of OI

Because of all these different collagen abnormalities, OI can be quite variable in its presentation. Some people are barely affected at all, while others may suffer fractures in utero and die at birth. Because of this variability in presentation, it has been difficult to classify. 

It was initially classified into 4 types in 1979 by an Australian physician, David Sillence:

• Type I: mild, most common, minimal deformity.

• Type II: perinatal lethal, severe fractures in utero.

• Type III: severe, progressive deformities, short stature.

• Type IV: moderate severity, variable presentation.

Since then, over 20 other phenotypic variants have been found.

Along with brittle bones that easily fracture, other abnormalities may include a blue hue to the sclera of the eyes, short stature, limb asymmetry, scoliosis, discoloured teeth that chip easily, hearing loss, joint hypermobility, skin laxity, cardiovascular problems, and facial and skull deformities with neurologic consequences. 

OI and EMS

So even though this condition is fairly rare, it is important to be aware of it in EMS as it has implications for management. When responding to a patient with OI, the way you assess, move, and interact with them makes a tremendous difference. 

OI is a condition where even minor trauma, or, sometimes, no obvious trauma at all, can lead to fractures. Because of this, EMS providers must be intentional, gentle, and well-informed during every step of care.

Before you touch the patient, get as much information as possible. Your assessment should begin with thoughtful questions that guide safe handling:

• “What type of OI do you have?”

OI types vary dramatically in severity. Type I may involve mild fragility, while Type III or severe forms may mean the patient fractures extremely easily and may have significant deformities.

• “What’s your normal level of mobility?”

Some patients walk independently, while others use wheelchairs or specialised devices. Knowing their baseline helps you understand what is normal versus what suggests injury.

• “What has caused fractures in the past?”

If a patient typically fractures with minimal force, you’ll know to adapt your handling even more carefully.

• “What positioning or handling works best for you?”

Many families have learned through experience what methods reduce pain and prevent additional fractures.

Parents and caregivers are invaluable resources. They know the patient’s history, limitations, and safe-handling strategies far better than anyone else on scene. Taking a moment to listen will save time and prevent harm.

OI and Immobilization

Traditional immobilization tools can cause injury if used carelessly on a patient with OI. 

When immobilizing, it’s important to avoid:

• Overly tight straps

• Hard backboards or cots without substantial padding

• Excessive traction or forced alignment

Instead, choose options that mould gently to the patient’s body:

• Vacuum splints for limb stabilization

• Scoop stretchers to eliminate unnecessary rolling

• Use extra padding, especially around pressure points

Plan for slow, coordinated team lifts with constant communication. The goal is to support fractures without introducing new ones. Be gentle in your words as well as your touch. Many OI patients, especially children, fear being handled because they’ve experienced painful medical encounters.

Stay Aware

Maintain a high index of suspicion for:

• New fractures from low-impact events. Like in the example above, a fall from standing height in a child would not usually result in a fracture, but could very well in a child with OI.

• Rib fractures that make breathing painful or shallow, and remember mechanism of injury may not have been at all severe.

• Spine instability in severe OI types requires an even higher index of suspicion for spinal injury in trauma.

• Respiratory difficulty from chest-wall deformities occurs as a result of chest wall fractures or spinal scoliosis. If the patient reports trouble breathing, take it seriously because anatomical limitations from prior injury may restrict ventilation even without trauma.

OI patients are vulnerable, and EMS providers can make a big difference through awareness and compassionate care.

References:

F.S. Van Dijk, G. Pals, R.R. Van Rijn, P.G.J. Nikkels, J.M. Cobben,

Classification of Osteogenesis Imperfecta Revisited,European Journal of Medical Genetics, Volume 53, Issue 1, 2010, Pages 1-5, Available at https://www.sciencedirect.com/science/article/abs/pii/S1769721209001554#:~:text=Because%20of%20the%20extreme%20clinical,in%20use%20today%20%5B24%5D. Accessed December 1, 2025.

Phonela, S. M. H., Goller, R. and Karsas, M. (2020) ‘Osteogenesis imperfecta: an overview’, SA Orthopaedic Journal, 19(4), pp. 229–234. Available at https://www.researchgate.net/publication/350413124_Osteogenesis_imperfecta_an_overview Accessed December 1, 2025.

Tsuji, S.-, Kimura, F.-, and colleagues (2021) ‘Current overview of osteogenesis imperfecta: prenatal diagnosis, genetic testing, and new therapeutic directions’, Available at https://chatgpt.com/c/691ca2cf-2fe4-8005-add2-50b181c6e7d9 Accessed December 1, 2025.

Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014 Jun;164A(6):1470-81. doi: 10.1002/ajmg.a.36545. Epub 2014 Apr 8. Erratum in: Am J Med Genet A. 2015 May;167A(5):1178. Available at https://pmc.ncbi.nlm.nih.gov/article.