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A 46-year-old member asked:

what to do if i have type 1 osteogenesis imperfecta? what is this?

1 doctor answer2 doctors weighed in
Dr. Richard Roberts
Pediatrics 46 years experience
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.

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A 29-year-old member asked:

Is osteogenesis imperfecta a form of dwarfism?

2 doctor answers4 doctors weighed in
Dr. Robert Kwok
Pediatrics 33 years experience
Not true dwarfism: Osteogenesis imperfecta is a genetic disorder in which a person has a mutation in his dna that causes him to have defective connective tissues and/or smaller amounts of connective tissue. His bones are weakened and brittle, so they break more easily. In the severe forms, the bones break so often, from infancy, so that one ends up small. One's shortness is due to multiple fractures.
A 27-year-old member asked:

Which organ systems are affected by osteogenesis imperfecta?

3 doctor answers7 doctors weighed in
Dr. William Banks Hinshaw
Obstetrics and Gynecology 43 years experience
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.
A 36-year-old member asked:

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

1 doctor answer1 doctor weighed in
Dr. Edward Hellman
Orthopedic Surgery 29 years experience
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.
A 44-year-old member asked:

What are the signs of osteogenesis imperfecta type 1?

1 doctor answer4 doctors weighed in
Dr. Lois Freisleben-Cook
Pediatrics 41 years experience
Blue sclera: i.e the whites of the eyes have a blue tinge, and frequent fractures.
A 41-year-old member asked:

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

1 doctor answer1 doctor weighed in
Dr. Howard Feinberg
Rheumatology 37 years experience
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

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Last updated Aug 16, 2015

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