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| {{DiseaseDisorder infobox | | | {{Infobox_Disease | |
| Name = Osteogenesis imperfecta | | | Name = Osteogenesis imperfecta | |
| ICD10 = {{ICD10|Q|78|0|q|65}} | | | Image = | |
| ICD9 = {{ICD9|756.51}} | | | Caption = | |
| | DiseasesDB = 34500| |
| | ICD10 = {{ICD10|K|29|0|k|20}}-K29.7 | |
| | ICD9 = {{ICD9|535.0}}-535.5 | |
| ICDO = | | | ICDO = | |
| Image = XrayOITypeV-Audult-Reddicharla.jpg|
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| Caption = |
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| OMIM = | | | OMIM = | |
| MedlinePlus = 001573 | | | MedlinePlus = | |
| eMedicineSubj = ped |
| | MeshID = | |
| eMedicineTopic = 1674 |
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| DiseasesDB = 9342 |
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| MeshID = D010013 | | |
| }} | | }} |
| {{SI}} | | {{Osteogenesis imperfecta}} |
| {{CMG}}
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| {{SK}} Brittle Bone Disease, OI
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| ==Overview==
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| Osteogenesis imperfecta is a genetic bone disorder. People with OI are born without the proper [[protein]] ([[collagen]]), or the ability to make it, usually because of a deficiency of [[Type-I collagen]].<ref>{{cite journal | author=Rauch F, Glorieux FH | title=Osteogenesis imperfecta | journal=Lancet | year=2004 | pages=1377-85 | volume=363 | issue=9418 | id=PMID 15110498}}</ref> People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure, this impairment causes those with the condition to have weak or fragile bones.<ref>{{cite web |url=http://www.oif.org/site/PageServer?pagename=FastFacts |title=Osteogenesis Imperfecta Foundation: Fast Facts |accessdate=2007-07-05 |format= |work=}}</ref>
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| ==Historical Perspective==
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| The condition, or types of it, have had various other names over the years and in different nations. Among some of the most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease. The name "Osteogenesis Imperfecta" dates to at least 1895<ref>K. Buday, Beiträge zur Lehre von der Osteogenesis imperfecta ([[1895]]) </ref> and has been the usual medical term in the twentieth century to present. The current four type system began with Sillence in 1979.<ref>{{cite journal |author=Sillence DO, Senn A, Danks DM |title=Genetic heterogeneity in osteogenesis imperfecta |journal=J. Med. Genet. |volume=16 |issue=2 |pages=101-16 |year=1979 |pmid=458828 |doi=}}</ref> An older system deemed less severe types "Osteogenesis Imperfecta Tarda" while more severe forms were deemed "Osteogenesis Imperfecta Congenita."<ref>{{cite web |url=http://www.oif.org/site/PageServer?pagename=Glossary |title=Osteogenesis Imperfecta Foundation: Glossary |accessdate=2007-07-05 |format= |work=}}</ref> As this did not differentiate well, and all forms are congenital, this has since fallen out of favour.
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| The condition has been found in an Ancient Egyptian mummy from 1000 BC. The Norse king Ivar the Boneless may have had this condition as well. The earliest studies of it began in 1788 with the Swede Olof Jakob Ekman. He described the condition in his doctoral thesis and mentioned cases of it going back to 1678. In 1831, Edmund Axmann described it in himself and two brothers. Johann Friedrich Georg Christian Martin Lobstein dealt with it in adults in 1833. Willem Vrolik did work on the condition in the 1850s. The idea that the adult and newborn forms were the same came in 1897 with Martin Benno Schmidt.<ref>{{WhoNamedIt|synd|1743}}</ref>
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| ==Classification==
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| There are eight types of OI, Type I being the most common, though the symptoms range from person to person.
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| {| class="wikitable"
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| | '''Type''' || '''Description''' || '''[[OMIM]]'''
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| | Type I || mild|| {{OMIM2|166240}} (IA), {{OMIM2|166200}} (IB)
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| | Type II || severe and usually lethal in the perinatal period || {{OMIM2|166210}}
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| | Type III || considered progressive and deforming || {{OMIM2|259420}}
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| | Type IV || deforming, but with normal [[sclera]]s || {{OMIM2|166220}}
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| | Type V || shares the same clinical features of IV, but has unique [[histology|histologic]] findings ("mesh-like") || {{OMIM2|610967}}
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| | Type VI || shares the same clinical features of IV, but has unique [[histology|histologic]] findings ("fish scale") || {{OMIM2|610968}}
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| | Type VII || associated with [[cartilage associated protein]] || {{OMIM2|610682}}
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| | Type VIII || associated with [[leprecan]] || {{OMIM2|610915}}
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| |}
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| ===Type I===
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| Collagen is of normal quality but is produced in insufficient quantities:
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| *Bones [[fracture]] easily
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| *Slight spinal curvature
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| *Loose joints
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| *Poor muscle tone
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| *Discolouration of the sclera (whites of the eyes), usually giving them a blue-gray color. The blue-gray color of the sclera is due to the reflection of underlying choroidal veins. The underlying choroidal veins reflect through the sclera because there is defective synthesis of type 1 collagen.
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| *Early loss of hearing in some children
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| *Slight protrusion of the eyes
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| IA and IB are defined to be distinguished by the absence/presence of dentinogenesis imperfecta (characterized by opalescent teeth.) (Absent in IA, present in IB.)
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| ===Type II===
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| Collagen is not of a sufficient quality or quantity
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| *Most cases die within the first year of life due to [[respiratory failure]] or [[intracerebral hemorrhage]]
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| *Severe [[Respiration (physiology)|respiratory]] problems due to underdeveloped lungs
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| *Severe bone deformity and small stature
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| Type II can be further subclassified into groups A, B, C, which are distinguished by radiographic evaluation of the long bones and ribs. Type IIA demonstrates broad and short long bones with broad and beaded ribs. Type IIB demonstrates broad and short long bones with thin ribs that have little or no beading. Type IIC demonstrates thin and longer long bones with thin and beaded ribs.
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| ===Type III===
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| Collagen quantity is sufficient but is not of a high enough quality
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| *Bones fracture easily, sometimes even before birth
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| *Bone deformity, often severe
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| *Respiratory problems possible
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| *Short stature, spinal curvature and sometimes barrel-shaped rib cage
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| *Loose joints
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| *Poor muscle tone in arms and legs
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| *Discolouration of the sclera (whites of the eyes)
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| *Early loss of hearing, sometimes
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| Type III is distinguished among the other classifications as being the "Progressive Deforming" type, wherein a neonate presents with mild symptoms at birth and develops the aforementioned symptoms throughout life. Lifespan may be normal, albeit with severe physical handicapping.
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| ===Type IV===
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| Collagen quantity is sufficient but is not of a high enough quality
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| *Bones fracture easily, especially before puberty
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| *Short stature, spinal curvature and barrel-shaped rib cage
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| *Bone deformity is mild to moderate
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| *Early loss of hearing
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| Similar to Type I, Type IV can be further subclassified into types IVA and IVB characterized by absence (IVA) or presence (IVB) of [[dentinogenesis imperfecta]].
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| ===Type V===
| | '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' |
| [[image:XrayOITypeV-Audult-Reddicharla.jpg|left|thumb|92px|[[Media:XrayOITypeV-Audult-Reddicharla.jpg|OI Type V in Adult]]]] | |
| [[image:XrayOITypeV-Kid-Vardhan.jpg|left|thumb|92px|[[Media:XrayOITypeV-Kid-Vardhan.jpg|OI Type V in Child]]]]
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| Same clinical features as Type IV. Distinguished histologically by "mesh-like" bone appearance. Further characterized by the "V Triad" consisting of a) radio-opaque band adjacent to growth plates, b) hypertrophic calluses at fracture sites, and c) calcification of the [[radius (bone)|radio]]-[[ulna]]r [[interosseous membrane]].
| | {{CMG}}; {{AE}} {{AO}} |
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| * As per Doctors Francis Glorieux, Frank Rauch, and Leanne Ward in the Shriners Hospital for Children in Quebec<ref>{{cite journal |author=Glorieux FH, Rauch F, Plotkin H, ''et al'' |title=Type V osteogenesis imperfecta: a new form of brittle bone disease |journal=J. Bone Miner. Res. |volume=15 |issue=9 |pages=1650-8 |year=2000 |pmid=10976985 |doi=}}</ref>
| | ==[[Osteogenesis imperfecta overview|Overview]]== |
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| OI Type V leads to [[calcification]] of the membrane between the two forearm bones, making it difficult to turn the wrist. Another symptom is abnormally large amounts of repair tissue ([[hyperplasia|hyperplasic]] callus) at the site of fractures. At the present time, the cause for Type V is unknown, though doctors have determined that it is inherited.
| | ==[[Osteogenesis imperfecta historical perspective|Historical Perspective]]== |
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| [http://en.wikipedia.org/wiki/Image:XrayOITypeV-Audult-Reddicharla.jpg X-Ray OI Type V in Adult] | | ==[[Osteogenesis imperfecta classification|Classification]]== |
| [http://en.wikipedia.org/wiki/Image:XrayOITypeV-Kid-Vardhan.jpg X-Ray OI Type V Kid]
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| [http://www.oif.org/site/PageServer?pagename=TypeVStudy More on Type V Research] | | ==[[Osteogenesis imperfecta pathophysiology|Pathophysiology]]== |
| [http://www.shriners-genetics.mcgill.ca/pages%20folder/whatwearedoing_e.html More on OI Study]
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| ===Type VI=== | | ==[[Osteogenesis imperfecta causes|Causes]]== |
| Same clinical features as Type IV. Distinguished histologically by "fish-scale" bone appearance.
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| ===Type VII=== | | ==[[Osteogenesis imperfecta differential diagnosis|Differentiating Osteogenesis imperfecta from other Diseases]]== |
| * In 2005 a [[recessive]] form called "Type VII" was discovered. Thus far it seems to be limited to a First Nations people in Quebec.
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| ==Pathophysiology== | | ==[[Osteogenesis imperfecta epidemiology and demographics|Epidemiology and Demographics]]== |
| As a genetic disorder, OI is an [[autosomal dominant]] defect. Most people with OI receive it from a parent but it can also be an individual (''de novo'' or "sporadic") mutation.
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| ==Epidemiology and Demographics== | | ==[[Osteogenesis imperfecta natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| Frequency is approximately the same across groups, but for unknown reasons the Shona and Ndebele of Zimbabwe seem to have a higher proportion of Type III to Type I than other groups.<ref>{{cite journal |author=Viljoen D, Beighton P |title=Osteogenesis imperfecta type III: an ancient mutation in Africa? |journal=Am. J. Med. Genet. |volume=27 |issue=4 |pages=907-12 |year=1987 |pmid=3425600 |doi=10.1002/ajmg.1320270417}}</ref>. However, a similar pattern was found in segments of the Nigerian and South African population. In these varied cases the total number of OIs of all four types was roughly the same as any other ethnicity.
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| ==Diagnosis== | | ==Diagnosis== |
| ===X-ray===
| | [[Osteogenesis imperfecta history and symptoms| History and Symptoms]] | [[Osteogenesis imperfecta physical examination | Physical Examination]] | [[Osteogenesis imperfecta laboratory findings|Laboratory Findings]] | [[Osteogenesis imperfecta X-ray|X-ray]] | [[Osteogenesis imperfecta CT|CT]] | [[Osteogenesis imperfecta other imaging findings|Other Imaging Findings]] |
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| * Sine qua non of OI is generalized osteoporosis of both the axial and appendicular skeleton.
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| * Milder forms of OI result in thin, overtubulated bones with thin cortices, and relatively few fractures. The short tubular bones are also affected, though they are less frequently fractured.
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| * More severe forms of OI, such as in types II and III, feature thickened, shortened long bones with multiple fractures; these forms are often complicated by hyperplastic callus formation.
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| * Radiographs of the skull may reveal normal skull development in milder forms of disease. With increasing disease severity, the skull demonstrates poor mineralization and multiple wormian, or intrasutural, bones.
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| * The chest may be small. Multiple rib fractures are often found; these can cause the ribs to become broad and deformed.
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| * Spinal abnormalities in all subtypes include basilar invagination, platyspondyly, and scoliosis.
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| '''Patient #1'''
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| <gallery>
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| Image:
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| Osteogenesis imperfecta 001.jpg | |
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| Osteogenesis imperfecta 002.jpg | |
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| </gallery>
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| '''Patient#2'''
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| <gallery>
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| Osteogenesis-imperfecta-101.jpg | |
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| Osteogenesis-imperfecta-109.jpg
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| </gallery>
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| ==Treatment== | | ==Treatment== |
| At present there is no cure for OI. Treatments are aimed at increasing overall bone strength to prevent fracture and maintain mobility.
| | [[Osteogenesis imperfecta medical therapy|Medical Therapy]] | [[Osteogenesis imperfecta surgery|Surgery]] |
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| There have been many clinical trials done with the drug, [[Fosamax]], a drug used to treat women experiencing brittleness of bones due to [[osteoporosis]]. More success was seen in the pill form versus the IV form, but success was still seen. The [[FDA]] will not approve Fosamax as a treatment for OI because long term effects of the drug have not been studied.
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| Bone [[infection]]s are treated as and when they occur with the appropriate [[antibiotics]] and [[antiseptics]].
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| ===Physiotherapy=== | | ==Case Studies== |
| Physiotherapy used to strengthen muscles and improve motility in a gentle manner, while minimizing the risk of fracture. This often involves [[hydrotherapy]] and the use of support cushions to improve posture. Individuals are encouraged to change positions regularly throughout the day in order to balance the muscles which are being used and the bones which are under pressure.
| | [[Osteogenesis imperfecta case study one|Case#1]] |
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| Children often develop a fear of trying new ways of moving due to movement being associated with pain. This can make physiotherapy difficult to administer to young children.
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| ===Physical aids===
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| With adaptive equipment such as [[crutches]], splints, grabbing arms, and/or modifications to the home many individuals with OI can obtain a significant degree of autonomy.
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| ===Bisphosphonates===
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| Bisphosphonates (BPs), particularly those containing [[nitrogen]], are being increasingly administered to increase bone mass and reduce the incidence of fracture. BPs can be dosed orally (e.g. [[alendronate]]) or by intravenous injection/infusion (e.g. [[pamidronate]],<ref>{{cite journal |author=Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R |title=Cyclic administration of pamidronate in children with severe osteogenesis imperfecta |journal=N. Engl. J. Med. |volume=339 |issue=14 |pages=947-52 |year=1998 |pmid=9753709 |doi=}}</ref> [[zoledronic acid]]).
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| BP therapy is being used increasingly for the treatment of OI. It has proven efficiency in reducing fracture rates in children,<ref>{{cite journal |author=DiMeglio LA, Peacock M |title=Two-year clinical trial of oral alendronate versus intravenous pamidronate in children with osteogenesis imperfecta |journal=J. Bone Miner. Res. |volume=21 |issue=1 |pages=132-40 |year=2006 |pmid=16355282 |doi=10.1359/JBMR.051006}}</ref> however only a trend towards decreased fracture was seen in a small randomized study in adults.<ref>{{cite journal |author=Chevrel G, Schott AM, Fontanges E, ''et al'' |title=Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial |journal=J. Bone Miner. Res. |volume=21 |issue=2 |pages=300-6 |year=2006 |pmid=16418786 |doi=10.1359/JBMR.051015}}</ref> While decreasing fracture rates, there is some concern that prolonged BP treatment may delay the healing of OI fractures, although this has not been conclusively demonstrated.
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| Pamidronate is an approved treatment for '''osteogenesis imperfecta''' in Canada, but not yet in the United States. Marketed under the brand name '''Aredia®''', Pamidronate is usually administered as an intravenous infusion, lasting about three hours. The therapy is repeated every three to six months, and lasts for the life of the patient. Common side effects include bone pain, low calcium levels, nausea, and dizziness.
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| ===Orthopaedic surgery|Surgery===
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| Metal rods can be surgically inserted in the long bones to improve strength, a procedure developed by Harold A. Sofield, MD, at [[Shriners Hospitals for Children]] in Chicago. During the late 1940’s, Sofield, Chief of Staff at Shriners Hospitals in Chicago, worked there with large numbers of children with OI and experimented with various methods to strengthen the bones in these children.<ref>{{cite web |url=http://www.shriners.com/Hospitals/Chicago/conditions/OI.aspx |title=Chicago Shriners Hospital - Osteogenesis imperfecta |accessdate=2007-07-05 |format= |work=}}</ref> In 1959, with Edward A. Millar, MD, Sofield wrote a seminal article describing a solution that seemed radical at the time: the placement of stainless steel rods into the intramedullary canals of the long bones to stabilize and strengthen them. His treatment proved extremely useful in the rehabilitation and prevention of fractures; it was adopted throughout the world and still forms the basis for orthopedic treatment of OI.
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| [[Spinal fusion]] can also be performed to correct [[scoliosis]], although the inherent bone fragility makes this operation more complex in OI patients. Surgery for basilar impressions can be carried out if pressure being exerted on the [[spinal cord]] and [[brain stem]] is causing neurological problems.
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| ==References==
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| {{Reflist|2}}
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| ==External links==
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| * [http://www.oif.org OI Foundation Inc. (USA)]
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| * [http://www.oife.org OI Federation Europe]
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| * [http://www.oiaustralia.org OI Australia]
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| * [http://www.angelitosdecristal.org OI Foundation Mexico]
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| * {{WhoNamedIt|synd|1743}}
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| * [http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/default.asp Overview] at [[National Institute of Arthritis and Musculoskeletal and Skin Diseases|NIAMS]]
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| {{Congenital malformations and deformations of musculoskeletal system}} | | {{Congenital malformations and deformations of musculoskeletal system}} |
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| | [[Category:Up-To-Date]] |
| [[Category:Disease]] | | [[Category:Disease]] |
| [[Category:Genetic disorders]] | | [[Category:Genetic disorders]] |
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| [[cs:Osteogenesis imperfecta]]
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| [[de:Osteogenesis imperfecta]]
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| [[es:Osteogénesis imperfecta]]
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| [[fr:Ostéogenèse imparfaite]]
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| [[it:Osteogenesi imperfetta]]
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| [[nl:Osteogenesis imperfecta]]
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| [[pl:Wrodzona łamliwość kości]]
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| [[pt:Osteogénese imperfeita]]
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| [[ru:Несовершенный остеогенез]]
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| [[fi:Osteogenesis Imperfecta]]
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| [[sv:Osteogenesis imperfecta]]
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| [[tr:Osteogenesis İmperfecta]]
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| [[zh:成骨不全症]]
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