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Doctor insights on: Imperfecta Osteogenesis

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I have oi (osteogenasis imperfecta) does osteogenesis mean passed through genes?

I have oi (osteogenasis imperfecta) does osteogenesis mean passed through genes?

Osteo=bone: Genesis=building, imperfecta=imperfect
This is a family of several disorders that result in the brittle bone disease. Most are passed by defective recessive genes that are carried by two unaffected parents, that pass a pair of erroneous genes to the baby. If that person had babies, all would be unaffected carriers (only one) of the gene. ...Read more

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What is Osteogenesis Imperfecta?

What is Osteogenesis Imperfecta?

Osteogenesis: This is a rare inherited disorder characterized by several features including but not limited to blue sclera and pathologic fractures. ...Read more

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What is osteogenesis imperfecta?

What is osteogenesis imperfecta?

When: The bone is developing, the architecture is not sound, or has weakness. ...Read more

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What is osteogenesis imperfecta?

Genetic disease: This is a disease of type 1 collagen. It is inherited and comes in several forms. Some of these forms cause the white part of the eye to look blue. These disorders also cause fragile or brittle bones. The different types show up at different ages and have different severity. ...Read more

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How is osteogenesis imperfecta inheritanced?

How is osteogenesis imperfecta inheritanced?

Autosomal dominant: Osteogenesis impecta (OI) is transmitted in autosomal dominant fashion. Rare cases of OI, type II B &and type II C, are transmitted in autosomal recessive inheritance. ...Read more

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What are the types of osteogenesis imperfecta?

What are the types of osteogenesis imperfecta?

Osteogenesis...: There are several types of osteogenesis imperfecta (OI). Type I is the mildest and most common form of the disorder. It accounts for 50 percent of the total OI population.

More information on each type can be found from the OI Foundation website. Http://www. Oif. Org/site/PageServer? Pagename=AOI_Types
Talk with your pediatrician or a geneticist for more specific info. ...Read more

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What happens if I have osteogenesis imperfecta?

Depends: It really depends on what type you have. Here is some information:

http://emedicine. Medscape. Com/article/947588-overview ...Read more

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What to do if I have osteogenesis imperfecta?

You need to be eval-: Uated. If its confirmed, your family might need to be checked for it as well. A geneticist might be able to help if you are planning additions to the family, as oi can be passed to the kids.
Discuss with your pcp. With oi you are prone to deformities from frequent fractures, with minimal force.
Good luck and happy holidays. ...Read more

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Does a karyotype show osteogenesis imperfecta?

No: A karyotype is useful for detecting chromosomal abnormalities where the number of actual chromosomes is abnormal (e.g., Down syndrome or turner syndrome) or a large defect in a chromosome (like a duplication or translocation). Oi is caused by small mutations in a number of possible genes. There are some prenatal tests available for oi. ...Read more

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Can you tell me about osteogenesis imperfecta?

Can you tell me about osteogenesis imperfecta?

Genetic disease: For excellent general info go the NIH website here:
http://ghr. Nlm. Nih. Gov/condition/osteogenesis-imperfecta. ...Read more

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How many types of osteogenesis imperfecta are there?

There are 8 types: Dominantly Inherited
Type I:Mildest form ~ 50% of total.
Type II:Most severe form. High mortality rate
Type III:Most severe type who survives neonatal period.
Type IV: Moderate-severe growth retardation
Type V: Moderate in severity. Hypertrophic calluses
Type VI:Rare. Similar symptoms to OI Type IV
Resessively inherited Types VII and VIII
Type VII resembles IV and II
Type VIII similar to II, III ...Read more

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What type of inheritance for osteogenesis imperfecta?

What type of inheritance for osteogenesis imperfecta?

Autosomal dominant: Which means one copy of the altered gene in each cell is sufficient to cause the condition.
And less comnnly autosomal recessive type of inhertance which means two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene. ...Read more

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What can be done for people with osteogenesis imperfecta?

What can be done for people with osteogenesis imperfecta?

Medical follow up: Medical optimization and surgical stabilization of bones to optimize mobiligy. ...Read more

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What is the medical definition of osteogenesis imperfecta?

What is the medical definition of osteogenesis imperfecta?

See below: Osteogenesis imperfecta (oi) is a congenital disease that is present at birth. It is commonly caused by genetic defect in type 1 collagen, a building block of bone. There are various defects that can affect this gene. The severity of OI depends on the specific defect in the gene. OI is an autosomal dominant disease.
...Read more

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Which organ systems are affected by osteogenesis imperfecta?

Which organ systems are affected by osteogenesis imperfecta?

Collagen formation: Oi refers to a group of individual genetic errors, which are associated with a variety of collagen formation. Collagen is the mechanical foundation of body structure. Since the structure of bone depends on the mineralization of a complex called osteoid which is based on collagen, skeletal abnormalities, including deformity and fragility, are one of the most distressing characteristics of oi. ...Read more

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What is the inheritance pattern for osteogenesis imperfecta?

What is the inheritance pattern for osteogenesis imperfecta?

Autosomal dominant.: Autosomal dominant mutations in col1a1/col1a2 genes account for 90% of osteogenesis imperfecta cases. ...Read more

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What organ systems can be affected by osteogenesis imperfecta?

What organ systems can be affected by osteogenesis imperfecta?

Bones teeth eyes: Brittle bones poor dentition and blue sclerae (whites of the eyes) are common features of oi. ...Read more

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Can you have osteogenesis imperfecta and serve in the military?

Can you have osteogenesis imperfecta and serve in the military?

Depends: This probably depends on the level and severity of OI. I do not truly know the answer to this, but my guess is probably for even type one OI the mildest form, this would probably preclude military service. ...Read more

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Is osteogenesis imperfecta can be inherent by all your children?

Possibly: This autosomal dominant disorder has a 50% per pregnancy transmission risk. Every conception may pass the disorder. So in fact, every child of an affected person could have the disorder or every child may be free of the disorder. In a series of a million pregnancies, statistically, half would & half would not. ...Read more

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What to do if I have type 1 osteogenesis imperfecta? What is this?

What to do if I have type 1 osteogenesis imperfecta? What is this?

Sounds like you may: Not have it. It is a collagen disorder which causes "brittle bones". The diagnosis is made by a very difficult collagen analysis which takes about 2 months, usually at Dr. Peter Buyer's lab at the U.of Washington. It may be passed from generation to generation. Characterized by multiple fractures from trivial forces. Very variable--one sib may have 20 fractures, and another may have none. ...Read more

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Can you tell me about osteogenesis imperfecta inheritance patterns?

Can you tell me about osteogenesis imperfecta inheritance patterns?

Autosomal dominant: Osteogenesis impecta (OI) is transmitted in autosomal dominant fashion. Rare cases of OI, type II B & type II C, are transmitted in autosomal recessive inheritance. ...Read more

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Please tell me can I have osteogenesis imperfecta type 1? How to tell?

Genetic testing: Osteogenesis I, can be evaluated and effectively ruled in or out by a geneticist. Physical exam finding, family history, and genetic testing can all be helpful. ...Read more

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I'm 32 and was diagnosed with osteogenesis imperfecta, can you help me?

I'm 32 and was diagnosed with osteogenesis imperfecta, can you help me?

Genetic disease: For excellent general info go to the NIH website here:
http://ghr. Nlm. Nih. Gov/condition/osteogenesis-imperfecta. There is accurate reliable information about diagnosis, treatment, and clinical trials (if interested). Also links to other sources of information are reliable. ...Read more

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What are possible complications that arise from osteogenesis imperfecta?

What are possible complications that arise from osteogenesis imperfecta?

It depends: Osteogenesis imperfecta is a group of disorders that cause bone fragility due to an error in the genetic code for type I collagen. All tissues that are composed of type I collagen are affected. There are many subtypes ranging in severity and associated comorbidities, but all include fragile bones. Among other systems that can be affected are dental and auditory systems. ...Read more

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Please help! What is the mode of inheritance for osteogenesis imperfecta?

OI mostly dominant: There are many types of osteogenesis imperfecta. Most are inherited in an autosomal dominant pattern (=one copy of the altered gene sufficient to cause condition). Some inherit it from a parent, others arise spontaneously (sporadic, de novo) in a child. Some types of oi are inherited in autosomal recessive manner which means that each parent is a carrier but does not have symptoms. ...Read more

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What does the karyotype of a person who has osteogenesis imperfecta look like?

What does the karyotype of a person who has osteogenesis imperfecta look like?

Like everyone elses: It is a group of at least 8 genetic disorders. Allthough it's genetic:
1) 35% didn't have it in their families (spontaneous mutation?)
2) it is dominant... one good gene one bad gene
3) it is the GENE... sub microscopic change in a handful of atoms in DNA. NOT the chromosome. ...Read more

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What to do if I have type 1 osteogenesis imperfecta. I know this means that when I havebe?

See a doctor: See a doctor with experience in OI. Type none can be mild or severe. The most common problem at your age is osteoporosis which can worsen after menopause. You should be on a high calcium diet. You also may need bisphosphonate therapy. This is an uncommon condition which requires someone with knowledge of the disease to help guide you re meds and exercise. Good luck to you ...Read more

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Is there a possibility that a person having an osteogenesis imperfecta become taller even at the age of 22?

Is there a possibility that a person having an osteogenesis imperfecta become taller even at the age of 22?

No: It is very unlikely for a person to gain height at age 22 years, because the growth plates in the long bones have fused already. ...Read more

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How will I know if my children will inherent my osteogenesis imperfecta? Is it 100% that they may inherent this disease?

50%: Of the several forms of osteogenisis imperfecta, the form that survives into adulthood is a simple autosomal dominant. That means up to 50% risks of passing it on with any conception. The process has quite a variation in expression. So detection may be delayed. ...Read more

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Is there a cure for osteogenesis imperfecta?

Is there a cure for osteogenesis imperfecta?

A genetic disorder: Osteogenesis imperfecta is a group of disorders that cause bone fragility due to an error in the genetic code for type I collagen. All tissues that are composed of type I collagen are affected. There are many subtypes ranging in severity and associated comorbidities, but all include fragile bones. There is no cure yet. ...Read more

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What are treatments for osteogenesis imperfecta?

What are treatments for osteogenesis imperfecta?

Depends: Primary therapy for brittle bone disease (also known as osteogenesis imperfecta or oi) is physical therapy for fractures with adequate calcium and vitamin d intake. For more severe cases, a class of medicines known as bisphosphonates is used. These medications given intravenously or orally can decrease fracture rates and reduce bone pain. Careful management by an orthopedist, endocrinologist impt. ...Read more

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Can osteogenesis imperfecta be curable?

Can osteogenesis imperfecta be curable?

No: osteogenesis imperfecta is not curable. There five types and they vary is severity. They can be treated with medication and allow patient to live with the disease. ...Read more

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Is osteogenesis imperfecta a curable disease?

Is osteogenesis imperfecta a curable disease?

No: It is an inherited connective tissue disease that produces "brittle bones" that results in non-traumatic fractures. It ranges from mild to lethal. There is no cure. Genetic counseling is indicated for the families. ...Read more

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Is osteogenesis imperfecta a chronic disease?

Is osteogenesis imperfecta a chronic disease?

Yes: It exists from conception until death, so it qualifies as chronic. Some are symptomatic at birth and some not until much older. ...Read more

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Is osteogenesis imperfecta a form of dwarfism?

Yes: In it's more severe stated there is retardation of growth therefore dwarfism would be seen. ...Read more

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Can osteogenesis imperfecta be a type of dwafism?

Yes: Osteogenesis imperfecta is associated with short stature, so it can be considered a type of dwarfism. ...Read more

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Can osteogenesis imperfecta be detected prior to birth?

Can osteogenesis imperfecta be detected prior to birth?

Sometimes: It depends on the type of oi. If a parent has oi, and the genetic mutation they carry has been identified, the fetal dna can be checked for the same mutation. This is done through amniocentesis and chorionic villus sampling. Sometimes fetal ultrasound can show changes of oi in severe cases. ...Read more

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