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Doctor insights on: Can A Lack Of Calcium Lead To Osteogenesis Imperfecta

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Dr. Thomas Fiala
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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What can lead to the blue sclera in osteogenesis imperfecta?

What can lead to the blue sclera in osteogenesis imperfecta?

It doesn't: Where the sclera is thin, it appears blue from the deoxygenated blood the choroidal blood vessel layter next tot he sclera. This is normal in patients who are nearsighted. Rarely, this is a sign associated with osteogenesis imperfecta. Not a cause. Not diagnostic. ...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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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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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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Please help! what is the mode of inheritance for osteogenesis imperfecta?

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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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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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

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Why does excessive perspiration occur in osteogenesis imperfecta?

Why does excessive perspiration occur in osteogenesis imperfecta?

Thin skin: Oi affects bones and collagen, which makes up a large part of the skin. People with oi have thin skin and as a result, higher normal body temperatures (by 1-2 degrees). They can be more sensitive to both heat and cold, and need to sweat more to reduce their body temperature. ...Read more

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Is it possible for people with osteogenesis imperfecta have babies?

Is it possible for people with osteogenesis imperfecta have babies?

Yes: They can have children and typically deliver by c-section. The likelihood of the offspring having the disease is 50 percent. ...Read more

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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

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Can osteogenesis imperfecta affect more than just bone structure?

Can osteogenesis imperfecta affect more than just bone structure?

YES...: This is a condition that affects all bones in the body - with a great degree of variability amongst patients in the severity of the disease. There are several types known, and symptoms are quite different depending on the type. What is common is the brittle bone - in mild forms the fractures occur in childhood and stop after adulthood. Some patients have hearing loss/tooth problems. ...Read more

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Can you tell me if osteogenesis imperfecta affects more than just bone structure?

Can you tell me if osteogenesis imperfecta affects more than just bone structure?

Yes it can: OIhas many different subtypes, some are more limited dot bone while others involve additional tissues. The problem in OI is with COLLAGEN an important building block protein in many living structures and tissues in many species. OI has now 8 different subtypes http://www.oif.org ...Read more

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What ratio of pro-collagen molecules are abnormal in type 2 osteogenesis imperfecta?

What ratio of pro-collagen molecules are abnormal in type 2 osteogenesis imperfecta?

See below: Osteogenesis imperfecta (oi) is disorder of congenital bone fragility caused by mutations in the genes that codify for type i procollagen (ie, col1a1 and col1a2). ...Read more

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How long does it take to get the results of a genes test for osteogenesis imperfecta?

How long does it take to get the results of a genes test for osteogenesis imperfecta?

Up to a month: The test usually involves a skin biopsy and usually must be sent to a special lab. The results take several weeks to come back generally. ...Read more

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Could osteogenesis imperfecta look similar to shaken baby syndrome in a deceased infant?

Could osteogenesis imperfecta look similar to shaken baby syndrome in a deceased infant?

Location/type of fx: Oi has several sub forms and the type & location of their fx are often used to help classify their subgroup. That said, the type and pattern of intentional trauma is recognizable. Breaks that show symetrical shoulder fx from shaking of a child lifted by his upper arms/ circumferential skull fx, etc. I believe a sub-board of pediatrics recognises those with the added training to sort these out. ...Read more

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Who was the person that discovered osteogenesis imperfecta (oi) or brittle bone disorder?

Who was the person that discovered osteogenesis imperfecta (oi) or brittle bone disorder?

Read my answer: So, oi has been noted in skeletons that date back to antiquity (egypt, specifically). The disease is also known as lobstein disease. There were actually a few lobsteins, german-french surgeons and anatomists in the late 18th and 19th centuries. The classification for oi is attributed to david sillence, an australian geneticist and an authority on the disease. ...Read more

Hypocalcemia (Definition)

Hypocalcemia refers to low measured levels of calcium in the blood. Symptoms of hypocalcemia may include numbness/tinglng of he hands and mouth or cramping. In severe cases, one's ability to think may be impaired. Hypocalcemia may be due to poor diet, vit d deficiency, disorders of the parathryoid ...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