A- dentenogenesis imperfecta
B- osteogenesis imperfect ***
Osteogenesis Imperfecta:
Osteogenesis imperfecta (OI) literally means "imperfectly formed bone." People with osteogenesis imperfecta have a genetic defect that impairs the body's ability to make strong bones.
Osteogenesis Imperfecta is a relatively rare condition.
Some people have a more severe form of the disorder in which their bones break easily.
They may break hundreds of bones during their lives. Many people, however, have a milder form of OI, and go through life with few fractures.
Cause:
In people with osteogenesis imperfecta, one of the genes that tells the body how to make a specific protein does not function.
This protein (type I collagen) is a major component of the connective tissues in bones.
Type I collagen is also important in forming ligaments, teeth, and the white outer tissue of the eyeballs (sclera).
As a result of the defective gene, not enough type I collagen is produced, or the collagen that is produced is of poor quality.
In either case, the result is fragile bones that break easily but can heal at a normal rate.
In most cases of OI, children inherit the defective gene from one of their parents.
But, the child's symptoms and the degree of disability can be very different from that of the parent.
In some children, neither parent has osteogenesis imperfecta.
In these cases, the genetic defect is a spontaneous mutation (change) in the gene, and it stops functioning correctly.
Symptoms and Signs:
There are different types of osteogenesis imperfecta with symptoms that range from mild to severe.
Each person with the condition may have a different combination of symptoms.
All people with OI, however, have weaker bones.
Some common symptoms of OI include:
- Short stature
- Triangular-shaped face
- Breathing problems
- Hearing loss
- Brittle teeth
- Bone deformities, such as bound legs or scoliosis
Description:
In many children with OI, the number of times their bones fraction decreases significantly as they mature.
However, osteogenesis imperfecta may become active again after menopause in women or after the age of 60 in men.
Scoliosis, or curvature of the spinal, is a problem for many children with osteogenesis imperfecta.
There are several types of OI and they vary in severity and characteristics.
As scientists have discovered new genetic problems causing OI, new types of the disorder have been recognized.
All types of the disorder, however, have symptoms and severity that fall somewhere within the range of the first four types recognized. These four types are described below.
Type I:
Type I osteogenesis imperfecta is the most common and mildest type of this disease.
While the structure of the collagen is normal, there is less collagen than there should be.
There is little or no bone deformity, although the bones are fragile and easily broken.
The effects of OI may extend to the teeth, making them prone to cavities and cracking.
The whites of the eyes may have a blue, purple, or gray tint.
Type II:
Type II osteogenesis imperfecta is the most severe form of the disease.
The collagen does not form properly.
Bones may break even while the fetus is in the womb.
Many infections with type II osteogenesis imperfecta do not survive.
Type III:
Type III osteogenesis imperfecta also improperly formed collagen and often sever bone deformities, plus additional complications.
The infant is often born with fractures.
The whites of the eyes may be white, blue, purple, or gray.
People with type III osteogenesis imperfecta are generally shorter than average.
They may have spinal deformities, respiratory complications, and brittle teeth.
Type IV:
Type IV osteogenesis imperfecta is moderately severe, with improperly formed collagen.
Bones fraction easy, but the whites of the eyes are normal.
Some people with type IV osteogenesis imperfecta may be shorter than average and may have brittle teeth.
Bone deformities are mild to moderate.
Doctor Examination:
In many cases, broken bones that occur with little or no force are the first sign of osteogenesis imperfecta, and will cause your doctor to suspect the condition.
Medical History and Physical Examination:
Because osteogenesis imperfecta is often inherited, your doctor will discuss family medical history in addition to your child's medical history. Your doctor will also complete a thorough physical examination that includes checking your child's eyes and teeth.
Tests:
X-rays. X-rays will provide your doctor with clear images of your child's bones, showing fractures as well as malformations of bone.
Laboratory tests. Your doctor may take blood or tissue samples for genetic testing. In many cases, these tests are able to identify the mutation, particularly if the parent's mutation is also known.
Ultrasound. Ultrasound can often detect sever cases of osteogenesis imperfecta during pregnancy.
Treatment:
While there is no cure for osteogenesis imperfecta, there are ways to improve a child's quality of life. Treatment is individualized and depends on the severity of the disease and the age of the patient. Care is provided by a team of healthcare professionals, including several types of doctors, a physical therapist, a nurse-clinician, and a social worker. Support from a social worker or psychologist is very helpful for both the child and the family, and often becomes even more important during adolescence.
Nonsurgical Treatment:
In most cases, treatment is nonsurgical.
Medication. Medical bisphosphonates, given to the child either by mouth or intravenously, slow down bone resorption. In children with more severe osteogenesis imperfecta, bisphosphonate treatment often reduces the number of fractures and bone pain. These medications must be administrated by properly trained doctors and require close monitoring.
Immobilization. Casting, bracing, or splinting fractures is necessary to keep the bones still and in line so that healing can occur.
Exercise. After a fraction, movement and weight bearing are encaged as soon as the bone has healed. Specific exercises will increase mobility and decrease the risk of future fractures.
Low-impact exercise, such as swimming and walking, can help strengthen bones and the muscles that support them. Exercise is part of a healthy lifestyle for every child.
Surgical Treatment:
Surgery may be recommended in cases of:
- Repeated fractures of the same bone.
- Fractures that do not heal properly.
- Bone deformity, such as scoliosis.
Osteogenesis Imperfecta:
Osteogenesis imperfecta (OI) literally means "imperfectly formed bone." People with osteogenesis imperfecta have a genetic defect that impairs the body's ability to make strong bones.
Osteogenesis Imperfecta is a relatively rare condition.
Some people have a more severe form of the disorder in which their bones break easily.
They may break hundreds of bones during their lives. Many people, however, have a milder form of OI, and go through life with few fractures.
Cause:
In people with osteogenesis imperfecta, one of the genes that tells the body how to make a specific protein does not function.
This protein (type I collagen) is a major component of the connective tissues in bones.
Type I collagen is also important in forming ligaments, teeth, and the white outer tissue of the eyeballs (sclera).
As a result of the defective gene, not enough type I collagen is produced, or the collagen that is produced is of poor quality.
In either case, the result is fragile bones that break easily but can heal at a normal rate.
In most cases of OI, children inherit the defective gene from one of their parents.
But, the child's symptoms and the degree of disability can be very different from that of the parent.
In some children, neither parent has osteogenesis imperfecta.
In these cases, the genetic defect is a spontaneous mutation (change) in the gene, and it stops functioning correctly.
Symptoms and Signs:
There are different types of osteogenesis imperfecta with symptoms that range from mild to severe.
Each person with the condition may have a different combination of symptoms.
All people with OI, however, have weaker bones.
Some common symptoms of OI include:
- Short stature
- Triangular-shaped face
- Breathing problems
- Hearing loss
- Brittle teeth
- Bone deformities, such as bound legs or scoliosis
Description:
In many children with OI, the number of times their bones fraction decreases significantly as they mature.
However, osteogenesis imperfecta may become active again after menopause in women or after the age of 60 in men.
Scoliosis, or curvature of the spinal, is a problem for many children with osteogenesis imperfecta.
There are several types of OI and they vary in severity and characteristics.
As scientists have discovered new genetic problems causing OI, new types of the disorder have been recognized.
All types of the disorder, however, have symptoms and severity that fall somewhere within the range of the first four types recognized. These four types are described below.
Type I:
Type I osteogenesis imperfecta is the most common and mildest type of this disease.
While the structure of the collagen is normal, there is less collagen than there should be.
There is little or no bone deformity, although the bones are fragile and easily broken.
The effects of OI may extend to the teeth, making them prone to cavities and cracking.
The whites of the eyes may have a blue, purple, or gray tint.
Type II:
Type II osteogenesis imperfecta is the most severe form of the disease.
The collagen does not form properly.
Bones may break even while the fetus is in the womb.
Many infections with type II osteogenesis imperfecta do not survive.
Type III:
Type III osteogenesis imperfecta also improperly formed collagen and often sever bone deformities, plus additional complications.
The infant is often born with fractures.
The whites of the eyes may be white, blue, purple, or gray.
People with type III osteogenesis imperfecta are generally shorter than average.
They may have spinal deformities, respiratory complications, and brittle teeth.
Type IV:
Type IV osteogenesis imperfecta is moderately severe, with improperly formed collagen.
Bones fraction easy, but the whites of the eyes are normal.
Some people with type IV osteogenesis imperfecta may be shorter than average and may have brittle teeth.
Bone deformities are mild to moderate.
Doctor Examination:
In many cases, broken bones that occur with little or no force are the first sign of osteogenesis imperfecta, and will cause your doctor to suspect the condition.
Medical History and Physical Examination:
Because osteogenesis imperfecta is often inherited, your doctor will discuss family medical history in addition to your child's medical history. Your doctor will also complete a thorough physical examination that includes checking your child's eyes and teeth.
Tests:
X-rays. X-rays will provide your doctor with clear images of your child's bones, showing fractures as well as malformations of bone.
Laboratory tests. Your doctor may take blood or tissue samples for genetic testing. In many cases, these tests are able to identify the mutation, particularly if the parent's mutation is also known.
Ultrasound. Ultrasound can often detect sever cases of osteogenesis imperfecta during pregnancy.
Treatment:
While there is no cure for osteogenesis imperfecta, there are ways to improve a child's quality of life. Treatment is individualized and depends on the severity of the disease and the age of the patient. Care is provided by a team of healthcare professionals, including several types of doctors, a physical therapist, a nurse-clinician, and a social worker. Support from a social worker or psychologist is very helpful for both the child and the family, and often becomes even more important during adolescence.
Nonsurgical Treatment:
In most cases, treatment is nonsurgical.
Medication. Medical bisphosphonates, given to the child either by mouth or intravenously, slow down bone resorption. In children with more severe osteogenesis imperfecta, bisphosphonate treatment often reduces the number of fractures and bone pain. These medications must be administrated by properly trained doctors and require close monitoring.
Immobilization. Casting, bracing, or splinting fractures is necessary to keep the bones still and in line so that healing can occur.
Exercise. After a fraction, movement and weight bearing are encaged as soon as the bone has healed. Specific exercises will increase mobility and decrease the risk of future fractures.
Low-impact exercise, such as swimming and walking, can help strengthen bones and the muscles that support them. Exercise is part of a healthy lifestyle for every child.
Surgical Treatment:
Surgery may be recommended in cases of:
- Repeated fractures of the same bone.
- Fractures that do not heal properly.
- Bone deformity, such as scoliosis.
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