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Doctor insights on: Is Osteogenesis Imperfecta A Form Of Dwarfism

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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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Dr. Steven Griggs
97 doctors shared insights

Osteogenesis Imperfecta (Definition)

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 ...Read more


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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

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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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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 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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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 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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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 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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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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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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Hi doctors, can you tell me what is osteogenesis imperfecta?

Fracture prone: There are VII types. The best description can be found on "scholar.google.com". The types are well summarized. ...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