Top
20
Doctor insights on: Osteogenesis Imperfecta

Share
Dr. Barbara Lavi
97 doctors shared insights

Osteogenesis Imperfecta (Overview)

A condition causing extremely fragile bones. Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect.


1

1
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

Dr. Barbara Lavi
97 doctors shared insights

Osteogenesis Imperfecta (Overview)

A condition causing extremely fragile bones. Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect.


3

3
What is osteogenesis imperfecta?

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

4

4
What is osteogenesis imperfecta?

What is osteogenesis imperfecta?

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

5

5
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

See 1 more doctor answer
6

6
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

See 1 more doctor answer
7

7
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

8

8
Is dentinogenesis imperfecta permanent?

Is dentinogenesis imperfecta permanent?

Yes, but: Yes, but see a dentist for recommended treatment options to restore teeth to the healthiest state possible. ...Read more

See 1 more doctor answer
9

9
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

See 1 more doctor answer
10

10
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

See 1 more doctor answer
11

11
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

See 1 more doctor answer
12

12
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

See 1 more doctor answer
13

13
Is osteogenesis imperfecta a bone disease and disorder?

Is osteogenesis imperfecta a bone disease and disorder?

Yes: Osteogenesis imperfecta, or oi for short, is caused by genetic mutations of certain collagen genes. There are a number of types, and the severity can range from lethal shortly after birth to quite mild. Bone fractures, sometimes dental problems, and sometimes hearing loss can occur. The oi foundation is a great source of information: http://www.Oif.Org/site/pageserver. ...Read more

14

14
Do brittle bones from osteogenesis imperfecta hurt?

Do brittle bones from osteogenesis imperfecta hurt?

The broken ones hurt: Osteogenesis imperfecta patients have weakened, brittle bones. The bones break easily and broken bones are painful. A patient appearing in pain should be checked for a new fracture. A person with o.I. Without fractures, probably does not have bone pain, unless he has some areas of small-scale bone damage from over-movement, stress, or pressure. O.I. Specialists can better evaluate such a patient. ...Read more

See 2 more doctor answers
15

15
Is osteogenesis imperfecta considered a chromosomal abnormality?

Is osteogenesis imperfecta considered a chromosomal abnormality?

No - a mutation.: Osteogenesis imperfecta is a genetic anomaly that in 90% of cases is due to a mutation in the col1a1, col1a2 genes of type i collagen. It is not a chromosomal anomaly. ...Read more

See 1 more doctor answer
16

16
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

20

20
Is osteogenesis imperfecta a type of the disease dwafism?

Is osteogenesis imperfecta a type of the disease dwafism?

No: Osteogenesis imperfecta deals with fragile bones and increase risk of fractures easily. Now with these fractures children's stature can be shorter but it is not a form frust of dwarfism. Various types exist and will manifest as fractures immediate at birth versus those that can occur later in infancy. ...Read more

Dr. Linda DiMeglio
71 doctors shared insights

Brittle Bone Disease (Definition)

Typical brittle bone disease is due to loss of mineralization of normal bone and can be diagnosed by regular x-rays. It is uncommon in men , in which case other diseases and conditions may be suspected, such as malabsorption, or other systemic disease. In women, it ...Read more