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What Is Lobstein Syndrome?

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  • Written By: Steve R.
  • Edited By: Kristen Osborne
  • Last Modified Date: 23 August 2014
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Lobstein syndrome, also known as brittle bone disease and osteogenesis imperfecta, is a condition in which an individual's bones become very fragile. A genetic condition, the severity of Lobstein syndrome varies, as eight types of Lobstein syndrome exist. The disease, often characterized by blue tinted eyes, multiple bone fractures, and hearing loss, affects more than 20,000 people annually in the United States. While no cure exists, a person with the condition may still lead a productive life.

A congenital disease, Lobstein syndrome is the result of many genes that are responsible for collagen — a building block for making bone — not working correctly, which leads to fragile bones. A child often inherits malfunctioning genes from one parent and in some instances, the condition is the result of the gene breaking down after the conception of a child. An individual with Lobstein syndrome runs the risk of passing the malfunctioning gene and disease to his offspring. About 15 percent of cases of the syndrome are caused by recessive mutation when both parents carry the recessive gene.

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Symptoms of osteogenesis imperfecta can be mild or severe, depending on the person. A person with brittle bone disease typically has loose joints and flat feet. The condition also causes an individual to develop a triangular face, be short in stature, and have malformed bones. In addition, the syndrome can cause a person to have fragile teeth, respiratory ailments, an odd-shaped rib cage, and hearing loss can develop in a person's 20s or 30s. A person with brittle bone disease can have more severe symptoms, including bowed legs and arms and curvature of the spine.

While a cure does not exist, Lobstein syndrome can be controlled. Treatment seeks to minimize or control symptoms and enhance bone mass and muscle strength. Individuals with the syndrome often undergo physical therapy and keep active through exercise. Walking and swimming are common physical activities for people with the condition, as those exercises have minimal chances for causing bone fractures. Individuals with the syndrome can also maintain weight through other activities that promote bone mass, such as eating healthy, refraining from smoking, and reducing alcohol and caffeine intake.

People with Lobstein syndrome typically manage the condition through tending to broken bones and undergoing dental procedures to fix brittle teeth. Individuals with more severe forms of the condition may often use mobile devices such as wheelchairs or leg braces. In some instances, metal rods are inserted in long bones in patients in order to enhance the bones and correct abnormalities.

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anon962207
Post 6

We are currently awaiting results of tests to see if our daughter has this. We brought her into the hospital for swelling of her leg that we couldn't explain and turned out she had a broken femur! Because we have no idea how this happened, there is no bruising and we didn't bring her in sooner. Our children have been taken by the state! We are being investigated and just praying we will get answers. This has broken our family as I am 24/7 stay at home mom and now we never see each other.

anon308045
Post 5

I have OI (Type 1 -- the least severe form), and I'm not short in stature (5'9" male). My father, who doesn't have the disease, is only 5'7". Also, I don't have a triangular face, but I do have flat feet and blue-tinted sclerae.

honeybees
Post 4

@golf07 - I don't know a lot about osteogenesis imperfecta but do have a distant cousin who has this.

I think it depends on the type and severity of the disease whether they will have a normal life span or not.

With my cousin, his is a moderate to severe case and he now uses a wheelchair to get around. He has had at least one surgery from this condition, and the most recent one was to put rods in his back.

This has been hard on him and his parents. I read somewhere that if someone has this brittle bone disease they have a 50% chance of passing it on to their children.

I have not heard what his life expectancy might be. I know he tries to maintain a positive attitude and stay as active as possible with the limitations he has.

golf07
Post 3

What is the typical lifespan of someone who has lobstein syndrome?

There is a young girl in our community who has this, although I have only heard it referred to as brittle bone disease.

Her parents really try to keep her healthy and want her to lead as normal a life as possible. I think it would be hard to monitor this on a constant basis.

There are so many accidents that can happen with kids, that I would probably be over protective because I would be afraid of her breaking bones.

Even though this is known to be a genetic disease, I don't think either of her parents have this disease.

While someone with this disease can still lead a productive life, I wonder what their average life span is?

jholcomb
Post 2

@ElizaBennett - How sad! According to the website of the Osteogenesis Imperfecta Foundation, that situation is not uncommon, especially because children with OI (as they call it) often bruise easily and will have old fractures in various stages of healing that the parents didn't know about - just like an abused child.

I'm glad this article is here because any parent could be in this situation, but knowing about the existence of the disease can help them be prepared for the allegation. Children with OI often have obvious markers like brittle teeth and blue sclera (white of the eye), but those who do not are more likely to be involved in child abuse allegations.

If you or someone you know suspects that a child in your life may have this condition, the OIF website has a physician referral service that can help you find a doctor to evaluate the child.

ElizaBennett
Post 1

A tragedy of brittle bone syndrome is that it can often lead to parents being accused of abuse when young children, who have not yet been diagnosed, turn up in the hospital with inexplicable broken bones.

When pressed for an explanation, the parent might say something like, "Well, maybe it happened when I was taking him out of the swing." There was a case like this in my area a few years ago where the father was arrested. The strange thing about this case was that the child was diagnosed and Social Services dropped the case, so the family thought it was over.

Image their surprise when Dad was then hauled off the jail. For some reason, the *criminal* case was ongoing! It took months and a lot of money to resolve - a tragedy for a good family trying to deal with a difficult medical condition.

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