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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 moreSee 1 more doctor answer
Genetic problem: It is caused by a mutation in the gene that has to do with collagen production. Collagen is a constituent of bone.. The out come of this major mutation can be severe osteoporosis, spontaneous bone fractures and other hormonal problems.occurring in childhood. ...Read moreSee 1 more doctor answer
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
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
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
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 moreSee 1 more doctor answer
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
Blue sclera: i.e the whites of the eyes have a blue tinge, and frequent fractures. ...Read more
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
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
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 moreSee 1 more doctor answer
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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
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
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
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
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
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
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
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
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
Is there a possibility that a person having an osteogenesis imperfecta become taller even at the age of 22?
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
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
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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