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Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. People with OI are born without the proper protein (collagen), or the ability to make it. 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.[8] The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ...
The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ...
// Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous...
The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ...
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ...
The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ...
MedlinePlus (medlineplus. ...
eMedicine is an online clinical medical knowledge base that was founded in 1996. ...
Tropocollagen triple helix. ...
A representation of the 3D structure of myoglobin, showing coloured alpha helices. ...
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. It has been suggested that this article or section be merged into Dominance relationship. ...
Types
There are six types of OI, though the symptoms range from person to person. Type I is the most common and mildest form, followed by Type II, Type III and Type IV. Types V and VI have been more recently classified, and they share the same clinical features of IV, but each have unique histologic findings. Type I osteogenesis imperfecta is mild. Type II is severe and usually lethal in the perinatal period. Type III is considered progressive and deforming. Type IV is deforming, but with normal scleras. A thin section of lung tissue stained with hematoxylin and eosin. ...
Type I Collagen is of normal quality but is produced in insufficient quantities: The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
- Bones fracture easily
- Slight spinal curvature
- Loose joints
- Poor muscle tone
- 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.
- Early loss of hearing in some children
- Slight protrusion of the eyes
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.) For fractures in geologic formations, see Rock fracture. ...
Schematic diagram of the human eye. ...
Type II Collagen is not of a sufficient quality or quantity The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
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. Respiratory failure is a medical term for inadequate gas exchange by the respiratory system. ...
...
// In animal physiology, respiration is the transport of oxygen from the ambient air to the tissue cells and the transport of carbon dioxide in the opposite direction. ...
Type III Collagen quantity is sufficient but is not of a high enough quality The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
- Bones fracture easily, sometimes even before birth
- Bone deformity, often severe
- Respiratory problems possible
- Short stature, spinal curvature and sometimes barrel-shaped rib cage
- Loose joints
- Poor muscle tone in arms and legs
- Discolouration of the sclera (whites of the eyes)
- Early loss of hearing, sometimes
Type III is distinguished amongst 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.
Type IV Collagen quantity is sufficient but is not of a high enough quality The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
- Bones fracture easily, especially before puberty
- Short stature, spinal curvature and barrel-shaped rib cage
- Bone deformity is mild to moderate
- Discolouration of the sclera (whites of the eyes)
- Early loss of hearing
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.
Type V 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 radio-ulnar interosseous membrane. Image File history File links Download high-resolution version (1844x2408, 266 KB) [edit] Summary Osteogenesis Imperfecta Type V Adult X-Ray Ramana Murthy Reddicharla [edit] Licensing File links The following pages on the English Wikipedia link to this file (pages on other projects are not listed): Osteogenesis imperfecta ...
Image File history File links Download high-resolution version (1844x2408, 266 KB) [edit] Summary Osteogenesis Imperfecta Type V Adult X-Ray Ramana Murthy Reddicharla [edit] Licensing File links The following pages on the English Wikipedia link to this file (pages on other projects are not listed): Osteogenesis imperfecta ...
Image File history File links Download high-resolution version (1257x1994, 129 KB) [edit] Summary Osteogenesis Imperfecta (OI) Type V in 11 months kid. ...
Image File history File links Download high-resolution version (1257x1994, 129 KB) [edit] Summary Osteogenesis Imperfecta (OI) Type V in 11 months kid. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
- As per Drs. Francis Glorieux and Frank Rauch and Leanne Ward in the Shriners Hospital for Children in Quebec
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 (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.
X-Ray OI Type V in Adult X-Ray OI Type V Kid
More on Type V Research More on OI Study
Type VI - No OMIM available. - Type VI
Same clinical features as Type IV. Distinguished histologically by "fish-scale" bone appearance.
Type VII - In 2005 a recessive form called "Type VII" was discovered. Thus far it seems to be limited to a First Nations people in Quebec.[9]
First Nations is a term of ethnicity used in Canada. ...
Motto: Je me souviens (French: I remember) Capital Quebec City Largest city Montreal Official languages French Government - Lieutenant-Governor Pierre Duchesne - Premier Jean Charest (PLQ) Federal representation in Canadian Parliament - House seats 75 - Senate seats 24 Confederation July 1, 1867 (1st) Area Ranked 2nd - Total 1,542,056 km² (595...
Treatment At present there is no cure for OI. Treatments are aimed at increasing overall bone strength to prevent fracture and maintain mobility.
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.
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. Physical therapy can help restore lost functionality in many people. ...
Hydrotherapy, formerly called hydropathy, is probably the oldest form of medical treatment. ...
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. “Hurting†redirects here. ...
Physical aids 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. Crutches are stick-like medical tools that a patient will use as a way of walking in the event that their own leg/s may be injured or unable to support weight. ...
Bisphosphonates (BPs), particularly the nitrogen-containing bisphosphonates, 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, zoledronic acid). In pharmacology, bisphosphonates (also called: diphosphonates) is a class of drugs that inhibits the resorption of bone. ...
Alendronate (Fosamax®, Merck) is a bisphosphonate drug used for osteoporosis and several other bone diseases. ...
Pamidronate disodium (brand name Aredia®) is a bisphosphonate used to prevent bone loss, and treat osteoporosis. ...
Zoledronate (Zometa®, Novartis) is a bisphosphonate, used to prevent osteoporosis and skeletal fractures, particularly in patients with cancers such as multiple myeloma and prostate cancer. ...
BP therapy is being used increasingly for the treatment of OI. It has proven efficiency in reducing fracture rates in children (DiMeglio, 2006), however only a trend towards decreased fracture was seen in a small randomized study in adults (Chevrel, 2006). 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.
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 3 hours. The therapy is repeated every 3 to 6 months, and lasts for the life of the patient. Common side effects include bone pain, low calcium levels, nausea, and dizziness.
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 - Chicago. During the late 1940’s, Sofield, Chief of Staff at Shriners Hospitals - Chicago, worked there with large numbers of children with OI and experimented with various method to strengthen the bones in these children. 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. Orthopedic surgery or orthopedics (BE: orthopaedics) is the branch of surgery concerned with acute, chronic, traumatic and recurrent injuries and other disorders of the locomotor system, its musclular and bone parts. ...
// Shriners Hospitals for Children is a network of 22 pediatric non-profit hospitals across North America that provide all care at no charge. ...
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. Spinal fusion, also known as spondylosyndesis is a surgical technique used to combine two or more vertebrae. ...
Infections are treated as and when they occur with the appropriate antibiotics and antiseptics. An infection is the detrimental colonization of a host organism by a foreign species. ...
An antibiotic is a drug that kills or slows the growth of bacteria. ...
An antiseptic is a substance that kills or prevents the growth of bacteria on the external surfaces of the body. ...
History and alternative names 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 and has been the usual medical term in the twentieth century to present. The current four type system began with Sillence in 1979.[1]. An older system deemed less severe types "Osteogenesis Imperfecta Tarda" while more severe forms were deemed "Osteogenesis Imperfecta Congenita."[2] As this did not differentiate well, and all forms are congenital, this has since fallen out of favour.
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.[3] Khafres Pyramid (4th dynasty) and Great Sphinx of Giza (c. ...
A mummy is a corpse whose skin and dried flesh have been preserved by either intentional or accidental exposure to chemicals, extreme cold, very low humidity, or airlessness. ...
(Redirected from 1000 BC) Centuries: 12th century BC - 11th century BC - 10th century BC Decades: 1050s BC 1040s BC 1030s BC 1020s BC 1010s BC - 1000s BC - 990s BC 980s BC 970s BC 960s BC 950s BC Events and Trends 1006 BC - David becomes king of the ancient Israelites (traditional...
Ivar the Boneless (Ivar inn beinlausi) (c. ...
1788 was a leap year starting on Tuesday (see link for calendar). ...
Events August 10 - Treaty of Nijmegen ends the Dutch War. ...
Leopold I 1831 (MDCCCXXXI) was a common year starting on Saturday (see link for calendar). ...
Year 1833 (MDCCCXXXIII) was a common year starting on Tuesday (link will display the full calendar) of the Gregorian Calendar (or a common year starting on Sunday of the 12-day slower Julian calendar). ...
1897 (MDCCCXCVII) was a common year starting on Friday (see link for calendar). ...
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.[4]. 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. Shona (IPA: ) is the name collectively given to several groups of people in Zimbabwe and western Mozambique. ...
This article relates to the Ndebele people of Zimbabwe. ...
Portrayal in popular culture Figures in film and television depicted as being afflicted with osteogenesis imperfecta include: - The aptly-nicknamed Mr. Glass (so called because of the brittleness of his bones) is a major character in the movie Unbreakable. The character's real name is Elijah Price (played by Samuel L. Jackson).
- Raymond Dufayel (sometimes simply called "the glass man" by his neighbors) in the French film Amélie; Dufayel is depicted as being confined to his house (the interior of which is heavily padded) by the condition.
- An ER episode Point of Origin also had a subplot featuring an anonymous child with the condition.[5]
- The fifth season of the series Scrubs also saw Elliot Reid doing research into the various types of therapy available to O.I. patients. Her obnoxious co-fellow Charlie then developed a new "gene therapy" cure, putting Elliot out of work. [6]
- A member of the Burns family, featured in one episode of the reality TV show Extreme Makeover: Home Edition. They may have been selected, in part, due to the OIF.[7]
- The 2005 movie Fragile features a child with this condition.
- The Jordanian-born British actor Nabil Shaban, who has OI, was specifically chosen for the role of the alien Mentor Sil in the two Doctor Who episodes Vengeance on Varos (1985) and Mindwarp (1986). This is because Sil was a maggot-like tailed creature and Shaban's underdeveloped legs were able to fit perfectly into the creature's tail, giving it an eerie life of its own. In 2004, Shaban presented a documentary about the Viking king Ivar the Boneless, who may have suffered the same condition as Shaban himself.
- British actor and writer Firdaus Kanga, who wrote and starred in the 1998 BBC film Sixth_Happiness partially based on his own life. The film deals with growing up in a 1970's cosmopolitan Bombay Parsi family with this condition. Kanga wrote Trying to Grow exploring the life of adolescents with this condition. Firdaus Kanga also featured on Channel 4 documentaries 'Taboo' and 'Double the Trouble, Twice the Fun,' exploring religion, sexuality and disability.
- In an episode of "The Simpsons" depicted three people who seemingly had OI, and the title of the show was aptly named "Brittle Boneheads"
This page refers to the film Unbreakable For other uses, see Unbreakable (disambiguation). ...
“Samuel Jackson†redirects here. ...
The art of motion-picture making within the nation of France or by French filmmakers abroad is collectively known as French cinema. ...
Amélie (Tautou), her father Raphaël (Rufus), and the travelling garden gnome. ...
ER is a long-running, Emmy Award winning American serial medical drama created by novelist Michael Crichton and set primarily in the emergency room of fictional County General Hospital in Cook County, Chicago, Illinois. ...
Scrubs is an Emmy- and Peabody Award-winning American situation comedy/dramedy that premiered on October 2, 2001 on NBC. Scrubs was created by Bill Lawrence, who also co-created Spin City. ...
Information Gender Female Age 29 or 31 (despite her claims that she is 29 in season 6 episode My Musical and 26 in season 3 episode My Dirty Secret) Occupation Doctor of internal medicine (private practice) Family Simon Reid (father), Lily Reid (mother), Barry Reid, Bradley Reid (brothers), Sally (great...
Extreme Makeover: Home Edition is an ABC reality television series that began broadcasting in 2003 in which a familys house, including all rooms, exterior and landscaping, is made over by a team of builders and designers in seven days. ...
Fragile is a 2006 film about a haunted childrens hospital. ...
Nabil Shaban (born 12 February 1953 in Amman, Jordan) is a British actor. ...
SIL International is a non-profit, faith-based, scientific organization with the main purpose to study, develop and document lesser-known languages for the purpose of expanding linguistic knowledge, promoting world literacy and aiding minority language development. ...
Doctor Who is a long-running award-winning British science fiction television programme (and a 1996 television film) produced by the BBC. The series shows the adventures of a mysterious time-traveller known as the Doctor, who explores time and space in his TARDIS (Time And Relative Dimension(s) In...
Vengeance on Varos is a serial in the British science fiction television series Doctor Who, which was first broadcast in two weekly parts from January 19 to January 26, 1985. ...
For other uses, see Mindwarp (disambiguation). ...
Ivar the Boneless (Ivar inn beinlausi) (c. ...
Firdaus Kanga is a writer who lives in London. ...
Sixth Happiness is a 1997 film directed by Indian director Waris Hussein. ...
A Parsi (Gujarati: PÄrsÄ«, IPA: ), sometimes spelled Parsee, is a member of the close-knit Zoroastrian community based in the Indian subcontinent. ...
Simpsons redirects here. ...
References
Print sources - The Official Patient's Sourcebook on Osteogenesis Imperfecta: A Revised and Updated Directory for the Internet Age (Icon Health Publications) ISBN 0-597-83399-0
- Managing Osteogenesis Imperfecta: A Medical Manual (OIF publisher) edited by Wacaster Pricisalla M.D. ISBN 0-9642189-3-3
- Third International Conference on Osteogenesis Imperfecta (Annals of the New York Academy of Sciences, Vol 543) ISBN 0-89766-482-5
- K. Buday, Beiträge zur Lehre von der Osteogenesis imperfecta (1895)
- Holcomb, D. Y. A Fragile-boned family: Hereditary fragilitas ossium (Journal series of the University of Arkansas) ASIN B0008CY9YS
- Clinical Orthopaedics and Related Research Number 159 Osteogenesis Imperfecta (Published:J. B. Lippincott, 1981)
- DO Sillence, A Senn and DM Danks, Genetic heterogeneity in osteogenesis imperfecta (1979 paper linked to current typology system)
- Glorieux, NJ Bishop, H Plotkin, G Chabot, G. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta (FH … - 1998 - biblioteca.osteogenesis.info)
- DO Sillence Osteogenesis imperfecta: an expanding panorama of variants- Clin Orthop Rel Res, 1981. PMID 82026194
- Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ. Type V osteogenesis imperfecta: a new form of brittle bone disease. PMID 20431497
- Rauch F, Glorieux FH (2004). "Osteogenesis imperfecta". Lancet 363 (9418): 1377-85. PMID 15110498.
- Hall CM. International Nosology and Classification of Constitutional Disorders of Bone (2001). American Journal of Medical Genetics 113:65-77 (2002). PMID: 12400068
- Cassidy SB, Allanson JE. Management of Genetic Syndromes, Second Edition. Wiley-Liss 2005. ISBN 0-471-30870-6
- Chevrel G, Schott AM, Fontanges E, Charrin JE, Lina-Granade G, Duboeuf F, Garnero P, Arlot M, Raynal C, Meunier PJ. Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. 2006 PMID 16418786
- DiMeglio LA, Peacock M. Two-year clinical trial of oral alendronate versus intravenous pamidronate in children with osteogenesis imperfecta. 2006 PMID 16355282
Year 1895 (MDCCCXCV) was a common year starting on Tuesday (link will display full calendar) of the Gregorian calendar (or a common year starting on Sunday of the 12-day-slower Julian calendar). ...
The University of Arkansas known also as the U of A or UA, is a public co-educational land-grant university. ...
Year 1981 (MCMLXXXI) was a common year starting on Thursday (link displays the 1981 Gregorian calendar). ...
Also: 1979 by Smashing Pumpkins. ...
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