Osteogenesis Imperfecta (OI Disease): Types, Symptoms, Diagnosis And Treatment

What is osteogenesis imperfecta (OI)?

Careful you do not fall! How often will a child with osteogenesis imperfecta (OI), a warning is not a parent be told? Probably countless times. Children with this disease have in fact very fragile bones. All they need but just to push to break something. That's because in these children is an error in the connective tissue. Connective tissue normally provides for the firmness of, among others, the bones and teeth. In people with OI, the bones are just soft and fragile. The result is that the bones grow easily bent. Children with OI also grow slowly and remain small. Also crumble their teeth off easily; they have so often bad teeth. Other possible symptoms of OI have blue sclera, hear bad and movable joints. There are six different types of OI. Type 1 is the most common. Children with Type 1 only suffer from the disease after their first year of life. Type 2 is the most severe form; babies with this type are stillborn or die shortly after birth. The other types 3 to 4, similar to type 1. Osteogenesis imperfecta is not curable. For example, splints, physical therapy and surgery, the symptoms can be lightened.

What types of osteogenesis imperfecta (OI) are there?

There are six different types of osteogenesis imperfecta (OI):

1. Type 1. This type is most common. Children with type 1 usually only break bones when they learn to walk. Generally, they break less than children with a different type of OI. They grow slowly and have bad teeth. Their sclera is often blue. Half of the children with a hearing loss. Other symptoms are slightly crooked grow and movable joints.
2. Type 2. Children with Type 2 are almost always born dead or die shortly after birth. They are born with many fractures. All their bones are soft, even their skull.
3. Type 3. In children with type 3 break the bones very quickly. The children also remain very small. They often crooked arms, legs and back. Their head is large with a wide forehead and narrow chin. The whites of the eyes is blue (later often white). Some children with type 3 hearing bad or have bad teeth. Children with this type are often visible disability.
4. Type 4. This type can be very much, but not necessarily. The fragility of the bones in this type differs from person to person. Usually people with type 4 remain smaller than average. Often they have bad teeth. Their whites of the eyes are blue or white. Some children with type 4 poor hearing.
5. Type 5 and 6. These types are not so long regarded as a separate type. They are very similar to type 4.

It is not always possible to determine what type of osteogenesis imperfecta (OI) goes. Indeed, there are many similarities between the various types. This excludes type 2, in which a baby usually dies soon.

Osteogenesis imperfecta is hereditary?

Osteogenesis imperfecta (OI disease) is hereditary. There is an error in the genetic material which would ensure the production of connective tissue. This genetic material is passed down from parent to child. And the disease, also.

The way OI inherits varies by type:

1. Type 1 and 4 are always autosomal dominant hereditary. Type 3 is usually too. That means that with each pregnancy has a 50% chance that the child has osteogenesis imperfecta.
2. Type II and Type 3 inherit quite sometimes autosomal recessive. Both parents have different material, but are themselves healthy. Their child has OI as both parents get this aberrant genetic material.
3. Type 2 usually comes from a spontaneous mutation. That is, it spontaneously an abnormality in just one egg or sperm that has arisen from which the child is born. OI is then not in the family.

If osteogenesis imperfecta in your family and you want children, then your GP or specialist may refer you to a genetic counselor. For more information about hereditary diseases also can go to a university hospital.

Osteogenesis imperfecta diagnosis

A physician recognizes osteogenesis imperfecta (OI) to broken bones, on movable joints, dental problems, insufficient growth and the color of the whites. Also, many fractures and deafness in your family are important clues. X-rays may help to determine OI. Radiographic examination is difficult because your child is taking a lot of attitude must change. The doctor must be very careful to make sure your child while breaking anything. If the physician is in doubt whether your child has OI, she will do a DNA test. For this, she needs a small patch of skin on your child's removal. By OI in a mild form, it may be long before someone discovered the disease. Sometimes think doctors at first fractures in child abuse. Such an accusation can give you the best fight by your doctor as much information about the condition of your child.

How do you deal with a child with osteogenesis imperfecta?

Babies with osteogenesis imperfecta (OI) have very fragile bones. You should therefore be extra careful with your baby. Make gentle movements and do not scare your child. Support when lifting his head, torso and buttocks as possible. Lift his legs when not changing the ankles. Prefer to keep one hand under his buttocks and slide the diaper in place. Let your baby sleep in a hammock, on a special mattress or a sheepskin. Use light blankets that you loosely tucked. Pull your child ample clothes. Furthermore it is good to get your baby much, caressing, massaging and do in Bath. Though you are still so cautious, your baby may still unfortunately break something. See your doctor if your baby cries more than usual, or if he moves strangely. It may be that he has broken something. Children with osteogenesis imperfecta should be given time to eat quietly. To the best of their teeth twice a day gently brush. A child with OI is often in the hospital with broken bones. Tell nurses and doctors how to care for your child at home. Your child can probably go to a regular school. Only gym class should not participate. It is important that your child continue playing as much as possible with all activities.

Osteogenesis imperfecta treatment

Osteogenesis imperfecta (OI) is not curable. For the fracture your child will regularly come into the hospital. The rest of the treatment is to help your child throughout his or her life is less affected by the disease. These points are important:

1. The muscles need to develop in a good way. The bones grow less than crooked. Your child should sit as upright as possible and lie. Splints or an inflatable suit also help to grow crooked.
2. People with OI have to move enough. Movement makes the bones stronger. For example, physical therapy and swimming are suitable.
3. A crooked bone can be put right with surgery. A metal pin ensures that the bone remains straight. For growing children there are pins that extend as the bone grows (telescopic pen).
4. For strong bones are getting enough vitamin D and calcium needs.
5. Impairment in OI can be treated with surgery.
6. It is very important to take care of your teeth or the teeth of your child extra good. Regularly go to the dentist for control. They will choose with smooth resin (sealing). This creates less holes. Pulling a tooth or teeth can be dangerous because the jaws of people with osteogenesis imperfecta (OI) break fast. Your dentist will refer you where necessary to an oral surgeon.