It's a well-known scene from a crime series: A child comes to a hospital, the staff notice bone breaks that have nothing to do with the current condition and the answer is simple - that's a clear case of domestic violence.
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But, before jumping to conclusion stop for a moment, there may be a case of osteogenesis imperfecta you are looking at.
Brittle bone disease or osteogenesis imperfecta is a lifelong genetic disorder that causes bones to break very easily, with or without any injury.
As with many other genetic disorders, osteogenesis imperfecta is inherited which means that genes are passed down from a parent to a child.
It affects both sexes in a very unpleasant way: there is a gen that is responsible for producing collagen, a protein that form bones. If there is no collagen, bones are weak and prone to break just like that.
Now, if a parent has a mutated gene, the child will have the same mutation but the severity of the condition may be different than in parents.
The main symptom is obviously easily recognized: a broken bone. Or bones. You may break your newborn baby's bone during a diaper change. Or your baby may burp and broke something.
There are cases of broken bones in the mother’s womb because organisms hit by osteogenesis imperfecta are very fragile. However, symptoms may appear later, sometimes even in child's teen years.
Other symptoms are easy bruising, heavy bleeding after an injury, blue color in the white part of the eyes, breathing problems, skin that is easily hurt, hearing loss that starts in early adulthood, loose joints, weak muscles and tissues, and the patient can’t stand warm temperatures.
We group brittle bone disease into types: mild, moderate or severe, and lethal.
In a case of a mild condition, there are few symptoms, little to no bone deformity, height not usually affected, broken bones decrease after puberty, number of broken bones from a few to many, and average life expectancy.
In a case of a moderate to severe condition, there are abnormally shaped spine and rib cage, up to several hundred broken bones in a lifetime, babies can be born with many broken bones or soft skull, and unfortunately severe breathing problems can lead to early death.
In a case of a lethal condition, babies usually die in the womb or soon after birth, severe fractures and breathing problems cause death soon.
We can diagnose brittle bone disease using X-rays to study current and past broken bones and we can view defects in the bones. Lab tests may be used to analyze the structure of your child’s collagen and genetic testing can trace the source of any defective genes to confirm it's about a hereditary condition.
Unfortunately, there is no cure for osteogenesis imperfecta, the only thing a medical persons can do is to try treatment to relieve symptoms, prevent breakage of bones, and maximize movement.
The first thing is to maintain a healthy weight because too much weight adds stress to the already fragile bones.
Then a diet rich in vitamin D and calcium are recommended, as well as exercise but that has to be done in a close connection with a doctor who can recommend activities that will help and not make a situation even worse.
Other things we may try are braces for weak legs, ankles, knees, and wrists, surgery to implant rods in the arms or legs, and dental work for brittle teeth. The patient can also use medicine to reduce pain and the surgeon may decide to place rods in the patient's bones to make them stronger.
Now, what to expect?
Depending on the severity of the condition, if it's not about a lethal condition, there is a range of possibilities: some patients need wheelchairs and on the other side of spectrum are patients that can live a normal life with just a bit more care. The lifespan can be normal in a mild case, and in a moderate case it can be shorter. ■