Osteogenesis imperfecta
Encyclopedia
Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or "Lobstein syndrome") is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen
Type-I collagen
Type-I collagen is the most abundant collagen of the human body.It is present in scar tissue, the end product when tissue heals by repair.It is found in tendons, the endomysium of myofibrils and the organic part of bone.- See also :* Collagen...

. This deficiency arises from an amino acid
Amino acid
Amino acids are molecules containing an amine group, a carboxylic acid group and a side-chain that varies between different amino acids. The key elements of an amino acid are carbon, hydrogen, oxygen, and nitrogen...

 substitution of glycine
Glycine
Glycine is an organic compound with the formula NH2CH2COOH. Having a hydrogen substituent as its 'side chain', glycine is the smallest of the 20 amino acids commonly found in proteins. Its codons are GGU, GGC, GGA, GGG cf. the genetic code.Glycine is a colourless, sweet-tasting crystalline solid...

 to bulkier amino acids in the collagen
Collagen
Collagen is a group of naturally occurring proteins found in animals, especially in the flesh and connective tissues of mammals. It is the main component of connective tissue, and is the most abundant protein in mammals, making up about 25% to 35% of the whole-body protein content...

 triple helix
Triple helix
In geometry, a triple helix is a set of three congruent geometrical helices with the same axis, differing by a translation along the axis. Structures in the form of a triple helix include:* collagen helix...

 structure. The larger amino acid side-chains create steric hindrance that creates a bulge in the collagen complex, which in turn influences both the molecular nanomechanics as well as the interaction between molecules, which are both compromised. As a result, the body may respond by hydrolyzing the improper collagen structure. If the body does not destroy the improper collagen, the relationship between the collagen fibrils and hydroxyapatite crystals to form bone is altered, causing brittleness. Another suggested disease mechanism is that the stress state within collagen fibrils is altered at the locations of mutations, where locally larger shear forces lead to rapid failure of fibrils even at moderate loads as the homogeneous stress state found in healthy collagen fibrils is lost. These recent works suggest that OI must be understood as a multi-scale phenomenon, which involves mechanisms at the genetic, nano-, micro- and macro-level of tissues.

As a genetic disorder, OI has historically been viewed as an autosomal dominant disorder of type I collagen. In the past several years, there has been the identification of autosomal recessive forms. Most people with OI receive it from a parent but in 35% of cases it is an individual (de novo or "sporadic") mutation.

Types

There are eight different types of OI, Type I being the most common, though the symptoms vary from person to person.
Type Description Gene OMIM
>-
| I
mild [Null COL1A1 allele] >-
| II
severe and usually lethal in the perinatal period COL1A1
COL1A1
Collagen, type I, alpha 1, also known as COL1A1, is a human gene that encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, including cartilage....

, COL1A2
COL1A2
Collagen alpha-2 chain is a protein that in humans is encoded by the COL1A2 gene.-External links:* -Further reading:...

,
>-
| III
considered progressive and deforming COL1A1
COL1A1
Collagen, type I, alpha 1, also known as COL1A1, is a human gene that encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, including cartilage....

, COL1A2
COL1A2
Collagen alpha-2 chain is a protein that in humans is encoded by the COL1A2 gene.-External links:* -Further reading:...

 
>-
| IV
deforming, but with normal sclera
Sclera
The sclera , also known as the white or white of the eye, is the opaque , fibrous, protective, outer layer of the eye containing collagen and elastic fiber. In the development of the embryo, the sclera is derived from the neural crest...

s
COL1A1
COL1A1
Collagen, type I, alpha 1, also known as COL1A1, is a human gene that encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, including cartilage....

, COL1A2
COL1A2
Collagen alpha-2 chain is a protein that in humans is encoded by the COL1A2 gene.-External links:* -Further reading:...

 
>-
| V
shares the same clinical features of IV, but has unique histologic
Histology
Histology is the study of the microscopic anatomy of cells and tissues of plants and animals. It is performed by examining cells and tissues commonly by sectioning and staining; followed by examination under a light microscope or electron microscope...

 findings ("mesh-like")
unknown >-
| VI
shares the same clinical features of IV, but has unique histologic
Histology
Histology is the study of the microscopic anatomy of cells and tissues of plants and animals. It is performed by examining cells and tissues commonly by sectioning and staining; followed by examination under a light microscope or electron microscope...

 findings ("fish scale")
unknown >-
| VII
autosomal recessive, associated with cartilage associated protein
Cartilage associated protein
Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.- Function :The protein encoded by this gene is similar to the chicken and mouse CRTAP genes...

 
CRTAP  >-
| VIII
severe to lethal, autosomal recessive, associated with the protein leprecan
Leprecan
Leprecan is a protein associated with osteogenesis imperfecta type VIII....

 
LEPRE1 

Type I

Collagen is of normal quality but is produced in insufficient quantities:
  • Bones fracture easily
  • Slight spinal curvature
  • Loose joints
  • Poor muscle tone
  • Discoloration of the sclera
    Sclera
    The sclera , also known as the white or white of the eye, is the opaque , fibrous, protective, outer layer of the eye containing collagen and elastic fiber. In the development of the embryo, the sclera is derived from the neural crest...

     (whites of the eyes), usually giving them a blue-gray color. The blue-gray color of the sclera is due to the underlying choroidal veins which show through. This is due to the sclera being thinner than normal because of the defective Type I collagen not forming correctly.
  • 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). Life expectancy is slightly reduced compared to the general population due to the possibility of fatal bone fractures and complications related to OI Type I such as basilar invagination
Basilar invagination
Basilar invagination occurs when the top of the C2 vertebrae migrates upward. It can cause the opening in the skull where the spinal cord passes through to the brain to narrow. It also may press on the lower brainstem....

.

Type II

Collagen is not of a sufficient quality or quantity
  • Most cases die within the first year of life due to respiratory failure
    Respiratory failure
    The term respiratory failure, in medicine, is used to describe inadequate gas exchange by the respiratory system, with the result that arterial oxygen and/or carbon dioxide levels cannot be maintained within their normal ranges. A drop in blood oxygenation is known as hypoxemia; a rise in arterial...

     or intracerebral hemorrhage
  • Severe respiratory
    Respiration (physiology)
    'In physiology, respiration is defined as the transport of oxygen from the outside air to the cells within tissues, and the transport of carbon dioxide in the opposite direction...

     problems due to underdeveloped lungs
  • Severe bone deformity and small stature


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.

Type III

Collagen improperly formed. Enough collagen is made but it is defective
  • Bones fracture easily, sometimes even before birth
  • Bone deformity, often severe
  • Respiratory problems possible
  • Short stature, spinal curvature and sometimes barrel-shaped rib cage
  • Triangular face
    Triangular face
    A triangular face, in the simplest sense, is a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards...

  • Loose joints
  • Poor muscle tone in arms and legs
  • Discolouration of the sclera
    Sclera
    The sclera , also known as the white or white of the eye, is the opaque , fibrous, protective, outer layer of the eye containing collagen and elastic fiber. In the development of the embryo, the sclera is derived from the neural crest...

     (the 'whites' of the eyes), often turning blue during severe -break.
  • Early loss of hearing possible


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.

Type IV

Collagen quantity is sufficient but is not of a high enough quality
  • Bones fracture easily, especially before puberty
  • Short stature, spinal curvature and barrel-shaped rib cage
  • Bone deformity is mild to moderate
  • 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
Dentinogenesis imperfecta
Dentinogenesis imperfecta is a genetic disorder of tooth development. This condition causes teeth to be discolored and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary teeth and permanent teeth...

.

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
Radius (bone)
The radius is one of the two large bones of the forearm, the other being the ulna. It extends from the lateral side of the elbow to the thumb side of the wrist and runs parallel to the ulna, which exceeds it in length and size. It is a long bone, prism-shaped and slightly curved longitudinally...

-ulna
Ulna
The ulna is one of the two long bones in the forearm, the other being the radius. It is prismatic in form and runs parallel to the radius, which is shorter and smaller. In anatomical position The ulna is one of the two long bones in the forearm, the other being the radius. It is prismatic in form...

r interosseous membrane
Interosseous membrane
An interosseous membrane is a broad and thin plane of fibrous tissue that separates many of the bones of the body. It is an important component of many joints.Interosseous membranes in the human body:* Interosseous membrane of the forearm...

.

OI Type V leads to calcification
Calcification
Calcification is the process in which calcium salts build up in soft tissue, causing it to harden. Calcifications may be classified on whether there is mineral balance or not, and the location of the calcification.-Causes:...

 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
Hyperplasia
Hyperplasia means increase in number of cells/proliferation of cells. It may result in the gross enlargement of an organ and the term is sometimes mixed with benign neoplasia/ benign tumor....

 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 Adult
X-Ray OI Type V Kid

More on Type V Research
More on OI Study

Type VI

Same clinical features as Type IV. Distinguished histologically by "fish-scale" bone appearance.

Type VII

  • In 2005 a recessive
    Recessive
    In genetics, the term "recessive gene" refers to an allele that causes a phenotype that is only seen in a homozygous genotype and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father...

     form called "Type VII" was discovered (Phenotype severe to lethal). Thus far it seems to be limited to a First Nations
    First Nations
    First Nations is a term that collectively refers to various Aboriginal peoples in Canada who are neither Inuit nor Métis. There are currently over 630 recognised First Nations governments or bands spread across Canada, roughly half of which are in the provinces of Ontario and British Columbia. The...

     people in Quebec
    Quebec
    Quebec or is a province in east-central Canada. It is the only Canadian province with a predominantly French-speaking population and the only one whose sole official language is French at the provincial level....

     For more information see http://www.oif.org/site/DocServer/CRTAP.pdf?docID=4522.


Mutations in the gene CRTAP causes this type.

Treatment

At present there is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility.

There have been many clinical trials performed with Fosamax (Alendronate), a drug used to treat those experiencing brittleness of bones due to osteoporosis
Osteoporosis
Osteoporosis is a disease of bones that leads to an increased risk of fracture. In osteoporosis the bone mineral density is reduced, bone microarchitecture is deteriorating, and the amount and variety of proteins in bone is altered...

. Higher levels of effectiveness apparently are to be seen in the pill form versus the IV form, but results seem inconclusive. The U.S. Food and Drug Administration (FDA) will not approve Fosamax as a treatment for OI because long term effects of the drug have not been fully researched yet, although it is often used in preteens, instead of Pamidronate.

Bone infection
Infection
An infection is the colonization of a host organism by parasite species. Infecting parasites seek to use the host's resources to reproduce, often resulting in disease...

s are treated as and when they occur with the appropriate antibiotics and antiseptics.

Physiotherapy

Physiotherapy used to strengthen muscles and improve motility in a gentle manner, while minimizing the risk of fracture. This often involves hydrotherapy
Hydrotherapy
Hydrotherapy, formerly called hydropathy, involves the use of water for pain-relief and treating illness. The term hydrotherapy itself is synonymous with the term water cure as it was originally marketed by practitioners and promoters in the 19th century...

 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.

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.

Physical aids

With adaptive equipment such as crutches, wheelchairs, splints, grabbing arms, and/or modifications to the home many individuals with OI can obtain a significant degree of autonomy.

Bisphosphonates

Bisphosphonates (BPs), particularly those containing nitrogen
Nitrogen
Nitrogen is a chemical element that has the symbol N, atomic number of 7 and atomic mass 14.00674 u. Elemental nitrogen is a colorless, odorless, tasteless, and mostly inert diatomic gas at standard conditions, constituting 78.08% by volume of Earth's atmosphere...

, are being increasingly administered to increase bone mass and reduce the incidence of fracture. BPs can be dosed orally (e.g. alendronate
Alendronate
Alendronic acid or alendronate sodium — sold as Fosamax by Merck — is a bisphosphonate drug used for osteoporosis and several other bone diseases. It is marketed alone as well as in combination with vitamin D . Merck's U.S...

) or by intravenous injection/infusion (e.g. pamidronate, zoledronic acid).

BP therapy is being used increasingly for the treatment of OI. It has proven efficiency in reducing fracture rates in children, however only a trend towards decreased fracture was seen in a small randomized study in adults. 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 used in USA, UK and Canada. Some hospitals, such as most Shriners, provide it to children. Some children are under a study of pamidronate. 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. According to recent results, extended periods of pamidrinate, (i.e.;6 years) can actually weaken bones, so patients are recommended to get bone densities every 6 months-1 year, to monitor bone strength.

Surgery

Metal rods can be surgically
Surgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...

 inserted in the long bones to improve strength, a procedure developed by Harold A. Sofield, MD, at Shriners Hospitals for Children
Shriners Hospitals for Children
Shriners Hospitals for Children is a network of 22 non-profit hospitals across North America. Children with orthopaedic conditions, burns, spinal cord injuries, and cleft lip and palate are eligible for care and receive all services in a family-centered environment, regardless of the patients’...

 in Chicago
Chicago
Chicago is the largest city in the US state of Illinois. With nearly 2.7 million residents, it is the most populous city in the Midwestern United States and the third most populous in the US, after New York City and Los Angeles...

. During the late 1940s, 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. In 1959, with Edward A. Miller, 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.

Spinal fusion
Spinal fusion
Spinal fusion, also known as spondylodesis or spondylosyndesis, is a surgical technique used to join two or more vertebrae. Supplementary bone tissue, either from the patient or a donor , is used in conjunction with the body's natural bone growth processes to fuse the vertebrae.Fusing of the...

 can be performed to correct scoliosis
Scoliosis
Scoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...

, 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
Spinal cord
The spinal cord is a long, thin, tubular bundle of nervous tissue and support cells that extends from the brain . The brain and spinal cord together make up the central nervous system...

 and brain stem
Brain stem
In vertebrate anatomy the brainstem is the posterior part of the brain, adjoining and structurally continuous with the spinal cord. The brain stem provides the main motor and sensory innervation to the face and neck via the cranial nerves...

 is causing neurological problems.

History

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 20th century to present. The current four type system began with Sillence in 1979. An older system deemed less severe types "osteogenesis imperfecta tarda" while more severe forms were deemed "osteogenesis imperfecta congenita." 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 Egypt
Ancient Egypt
Ancient Egypt was an ancient civilization of Northeastern Africa, concentrated along the lower reaches of the Nile River in what is now the modern country of Egypt. Egyptian civilization coalesced around 3150 BC with the political unification of Upper and Lower Egypt under the first pharaoh...

ian mummy
Mummy
A mummy is a body, human or animal, whose skin and organs have been preserved by either intentional or incidental exposure to chemicals, extreme coldness , very low humidity, or lack of air when bodies are submerged in bogs, so that the recovered body will not decay further if kept in cool and dry...

 from 1000 BC. The Norse
Norsemen
Norsemen is used to refer to the group of people as a whole who spoke what is now called the Old Norse language belonging to the North Germanic branch of Indo-European languages, especially Norwegian, Icelandic, Faroese, Swedish and Danish in their earlier forms.The meaning of Norseman was "people...

 king Ivar the Boneless
Ivar the Boneless
Ivar Ragnarsson nicknamed the Boneless , was a Viking leader and by reputation also a berserker. By the late 11th century he was known as a son of the powerful Ragnar Lodbrok, ruler of an area probably comprising parts of modern-day Denmark and Sweden.-Invader:In the autumn of AD 865, with his...

 may have had this condition as well. The earliest studies of it began in 1788 with the Swede
Sweden
Sweden , officially the Kingdom of Sweden , is a Nordic country on the Scandinavian Peninsula in Northern Europe. Sweden borders with Norway and Finland and is connected to Denmark by a bridge-tunnel across the Öresund....

 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. Jean Lobstein
Jean Lobstein
Jean Georges Chrétien Frédéric Martin Lobstein was a German-born, French pathologist and surgeon who was a native of Giessen....

 dealt with it in adults in 1833. Willem Vrolik
Willem Vrolik
Willem Vrolik was a Dutch anatomist and pathologist who was a native of Amsterdam. He was a pioneer in the field of vertebrate teratology....

 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
Martin Benno Schmidt
Martin Benno Schmidt was a German pathologist who was born in Leipzig. He spent several years as an assistant in Strasbourg, where he worked under Friedrich Daniel von Recklinghausen . In 1906 he became a professor of pathology at the medical academy in Düsseldorf, and afterwards worked as a...

.

Epidemiology

In the United States, the incidence
Incidence (epidemiology)
Incidence is a measure of the risk of developing some new condition within a specified period of time. Although sometimes loosely expressed simply as the number of new cases during some time period, it is better expressed as a proportion or a rate with a denominator.Incidence proportion is the...

 of osteogenesis imperfecta is estimated to be 1 per 20,000 live births.

Frequency is approximately the same across groups, but for unknown reasons the Shona
Shona people
Shona is the name collectively given to two groups of people in the east and southwest of Zimbabwe, north eastern Botswana and southern Mozambique.-Shona Regional Classification:...

 and Ndebele
Ndebele people (Zimbabwe)
The Ndebele are a branch of the Zulus who split from King Shaka in the early 1820s under the leadership of Mzilikazi, a former general in Shaka's army....

 of Zimbabwe
Zimbabwe
Zimbabwe is a landlocked country located in the southern part of the African continent, between the Zambezi and Limpopo rivers. It is bordered by South Africa to the south, Botswana to the southwest, Zambia and a tip of Namibia to the northwest and Mozambique to the east. Zimbabwe has three...

 seem to have a higher proportion of Type III to Type I than other groups. However, a similar pattern was found in segments of the Nigeria
Nigeria
Nigeria , officially the Federal Republic of Nigeria, is a federal constitutional republic comprising 36 states and its Federal Capital Territory, Abuja. The country is located in West Africa and shares land borders with the Republic of Benin in the west, Chad and Cameroon in the east, and Niger in...

n and South Africa
South Africa
The Republic of South Africa is a country in southern Africa. Located at the southern tip of Africa, it is divided into nine provinces, with of coastline on the Atlantic and Indian oceans...

n population. In these varied cases the total number of OIs of all four types was roughly the same as any other ethnicity.

Noted cases

  • American actors Michael J. Anderson
    Michael J. Anderson
    Michael J. Anderson is an American actor known for his roles as the Man from Another Place in David Lynch's television series Twin Peaks, the epilogue and prologue film of the series, Twin Peaks: Fire Walk with Me, and Samson Leonhart on the HBO series Carnivàle...

    , Tarah Lynne Schaeffer (Sesame Street
    Sesame Street
    Sesame Street has undergone significant changes in its history. According to writer Michael Davis, by the mid-1970s the show had become "an American institution". The cast and crew expanded during this time, including the hiring of women in the crew and additional minorities in the cast. The...

    ) and Atticus Shaffer
    Atticus Shaffer
    Atticus Shaffer is an American actor known for portraying Matty Newton in the 2009 supernatural horror-thriller film The Unborn and Brick Heck in the ABC sitcom The Middle.-Personal life:...

  • British actors Julie Fernandez
    Julie Fernandez
    Julie Fernandez is a British actress, best known as Brenda, her award-winning role on the BBC comedy The Office. She is also a model....

     and Nabil Shaban
    Nabil Shaban
    Nabil Shaban is a British actor and writer. He founded The Graeae - a theatre group which promotes performers with disabilities. He has a son named Zenyel....

  • British peer Nicola Chapman, Baroness Chapman
    Nicola Chapman, Baroness Chapman
    Nicola Jane Chapman, Baroness Chapman was a British peer and disability rights activist.She was appointed to the House of Lords in 2004 as Baroness Chapman, of Leeds in the County of West Yorkshire and was the first person with a congenital disability – Osteogenesis imperfecta – to be...

  • Randy Guss, drummer for Toad the Wet Sprocket
    Toad the Wet Sprocket
    Toad the Wet Sprocket is an American alternative rock band formed in 1986. The band consists of singer/guitarist Glen Phillips, guitarist Todd Nichols, bassist Dean Dinning, and drummer Randy Guss. The band enjoyed chart success in the 1990s with the singles "Walk on the Ocean," "All I Want,"...

  • American Olympic bronze medalist coxswain
    Coxswain
    The coxswain is the person in charge of a boat, particularly its navigation and steering. The etymology of the word gives us a literal meaning of "boat servant" since it comes from cox, a coxboat or other small vessel kept aboard a ship, and swain, which can be rendered as boy, in authority. ...

     Doug Herland
    Doug Herland
    Douglas "Doug" John Herland was a 1984 Summer Olympics bronze medal Winner, coxing the Men's Pair with coxswain event...

  • Paralympic gold and bronze medalist in sledge hockey
    Sledge hockey
    Sledge hockey is a sport that was designed to allow participants who have a physical disability to play the game of ice hockey. Ice sledge hockey was invented in the early 1960s in Stockholm, Sweden at a rehabilitation center...

    , Taylor Lipsett
    Taylor Lipsett
    Andrew "Taylor" Lipsett is an ice sledge hockey player and Paralympic Gold and bronze medalist. He graduated from Southern Methodist University and is married. He is also a member of the charity "Team for Tomorrow" and has Osteogenesis imperfecta.- References :...

  • Zimbabwean marimba player Energy Maburutse who is currently a student at Lynn University
    Lynn University
    Lynn University is a private, non-profit university in Boca Raton, Florida, founded in 1962.The university currently hosts students from 40 states and 90 nations...

     in Boca Raton, Florida
    Boca Raton, Florida
    Boca Raton is a city in Palm Beach County, Florida, USA, incorporated in May 1925. In the 2000 census, the city had a total population of 74,764; the 2006 population recorded by the U.S. Census Bureau was 86,396. However, the majority of the people under the postal address of Boca Raton, about...

    .
  • Japanese countertenor
    Countertenor
    A countertenor is a male singing voice whose vocal range is equivalent to that of a contralto, mezzo-soprano, or a soprano, usually through use of falsetto, or far more rarely than normal, modal voice. A pre-pubescent male who has this ability is called a treble...

     singer Yoshikazu Mela
  • Jazz pianist Michel Petrucciani
    Michel Petrucciani
    Michel Petrucciani was a French jazz pianist.-Biography:...

  • German actor, writer, and ethicist Peter Radtke
    Peter Radtke
    Doctor Peter Radtke is a German actor and playwright who is the author of many scientific publications on disability issues and has a PhD in Romance languages. From 1957 to 1961 Peter Radtke completed training as an interpreter of English, French, and Spanish at a private foreign language school...

  • Parsi playwright Firdaus Kanga
    Firdaus Kanga
    Firdaus Kanga is a writer and actor who lives in London. He has written a novel, Trying to Grow a semi-autobiographical novel set in India and a travel book Heaven on Wheels about his experiences in the United Kingdom...

  • Guinness World Records' shortest man He Pingping
    He Pingping
    He Pingping was, according to the Guinness World Records, the world's shortest man who was able to walk.- Early and personal life :He measured 74 cm tall, and was the third child of a family in Huade county, in the city of Ulanqab in northern China's Inner Mongolia Autonomous Region. He had...

  • Motivational speaker Sean Stephenson
    Sean Stephenson
    Sean Clinch Stephenson is an American therapist, self-help author and motivational speaker. Because he was born with osteogenesis imperfecta, Stephenson stands just three feet tall, has fragile bones, and must use a wheelchair.-Early life:...


Historical figures whose OI status is disputed

  • French artist Henri de Toulouse-Lautrec
    Henri de Toulouse-Lautrec
    Henri Marie Raymond de Toulouse-Lautrec-Monfa or simply Henri de Toulouse-Lautrec was a French painter, printmaker, draughtsman, and illustrator, whose immersion in the colourful and theatrical life of fin de siècle Paris yielded an œuvre of exciting, elegant and provocative images of the modern...

    . He was never diagnosed, and recent theories suggest that he had a mild form of osteopetrosis
    Osteopetrosis
    Osteopetrosis, literally "stone bone", also known as marble bone disease and Albers-Schonberg disease is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle,...

     instead. Maroteaux and Lamy have suggested pyknodysostosis as the explanation.

  • Viking invader of England, Ivar the Boneless
    Ivar the Boneless
    Ivar Ragnarsson nicknamed the Boneless , was a Viking leader and by reputation also a berserker. By the late 11th century he was known as a son of the powerful Ragnar Lodbrok, ruler of an area probably comprising parts of modern-day Denmark and Sweden.-Invader:In the autumn of AD 865, with his...

    . There is notable speculation about his physical condition, but since, 200 years after his death, his skeleton was exhumed and burnt by William I of England
    William I of England
    William I , also known as William the Conqueror , was the first Norman King of England from Christmas 1066 until his death. He was also Duke of Normandy from 3 July 1035 until his death, under the name William II...

    , objective diagnosis is not possible.

Society and culture

Figures in film, television, video games and novels depicted as having osteogenesis imperfecta include:
  • (1997-ongoing) Miles Vorkosigan
    Miles Vorkosigan
    Miles Naismith Vorkosigan is the hero of a series of science fiction novels and short stories by Lois McMaster Bujold known as the Vorkosigan Saga. In an article in The Vorkosigan Companion, Bujold acknowledged several real-life inspirations for the character: T. E...

    , the hero of a science-fiction series by Lois McMaster Bujold
    Lois McMaster Bujold
    Lois McMaster Bujold is an American author of science fiction and fantasy works. Bujold is one of the most acclaimed writers in her field, having won the prestigious Hugo Award for best novel four times, matching Robert A. Heinlein's record. Her novella The Mountains of Mourning won both the Hugo...

    , has a fictional non-genetic congenital disability which presents with symptoms very similar to that of the real-life condition, and the experience of which is central to his character.
  • (1998) British actor and writer Firdaus Kanga
    Firdaus Kanga
    Firdaus Kanga is a writer and actor who lives in London. He has written a novel, Trying to Grow a semi-autobiographical novel set in India and a travel book Heaven on Wheels about his experiences in the United Kingdom...

    , who wrote and starred in the 1998 BBC film Sixth Happiness
    Sixth Happiness
    Sixth Happiness is a 1997 film directed by Indian director Waris Hussein. It is based on the autobiography of Firdaus Kanga entitled Trying To Grow. Kanga played himself in this film about Britain, India, race and sex....

    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
    Trying to Grow
    Trying to Grow is a 1991 novel published by Bloomsbury. The novel is semi-autobiographical and set in urban India, about a young boy growing up with brittle bones. The protagonist, who would never grow taller than four feet, finds his way into the world of sexuality and adulthood...

    exploring the life of adolescents with this condition. Kanga featured on Channel 4 documentaries 'Taboo' and 'Double the Trouble, Twice the Fun,' exploring religion, sexuality and disability.
  • (1999) The ER
    ER (TV series)
    ER is an American medical drama television series created by novelist Michael Crichton that aired on NBC from September 19, 1994 to April 2, 2009. It was produced by Constant c Productions and Amblin Entertainment, in association with Warner Bros. Television...

    episode "Point of Origin" had a subplot featuring an anonymous child with the condition.
  • (2000) The film Unbreakable features a character played by Samuel L. Jackson
    Samuel L. Jackson
    Samuel Leroy Jackson is an American film and television actor and film producer. After becoming involved with the Civil Rights Movement, he moved on to acting in theater at Morehouse College, and then films. He had several small roles such as in the film Goodfellas before meeting his mentor,...

     named Elijah Price who suffers from OI and is nicknamed "Mr. Glass" due to the brittleness of his bones.
  • (2001) Raymond Dufayel (sometimes simply called "the glass man" by his neighbors) in the French film
    Cinema of France
    The Cinema of France comprises the art of film and creative movies made within the nation of France or by French filmmakers abroad.France is the birthplace of cinema and was responsible for many of its early significant contributions. Several important cinematic movements, including the Nouvelle...

     Amélie
    Amélie
    Amélie is a 2001 romantic comedy film directed by Jean-Pierre Jeunet. Written by Jeunet with Guillaume Laurant, the film is a whimsical depiction of contemporary Parisian life, set in Montmartre...

    ; Dufayel is depicted as being confined to his house (the interior of which is heavily padded) by the condition.
  • (2004) A member of the Burns family, featured in one episode of the reality TV show Extreme Makeover: Home Edition
    Extreme Makeover: Home Edition
    Extreme Makeover: Home Edition is a reality television series providing home renovations for less fortunate families and community schools etc...

    , has the disease. They may have been selected, in part, due to the OIF.
  • (2004) Nabil Shaban
    Nabil Shaban
    Nabil Shaban is a British actor and writer. He founded The Graeae - a theatre group which promotes performers with disabilities. He has a son named Zenyel....

     presented a documentary about the Viking king Ivar the Boneless
    Ivar the Boneless
    Ivar Ragnarsson nicknamed the Boneless , was a Viking leader and by reputation also a berserker. By the late 11th century he was known as a son of the powerful Ragnar Lodbrok, ruler of an area probably comprising parts of modern-day Denmark and Sweden.-Invader:In the autumn of AD 865, with his...

    , who may have suffered the same condition as Shaban himself
  • (2005) The novel "Forever Odd" written by Dean Koontz features a main character named Danny Makepeace, who has OI.
  • (2005) The movie Fragile features a child with this condition.
  • (2006) The fifth season of the series Scrubs
    Scrubs (TV series)
    Scrubs is an American medical comedy-drama television series created in 2001 by Bill Lawrence and produced by ABC Studios. The show follows the lives of several employees of the fictional Sacred Heart, a teaching hospital. It features fast-paced screenplay, slapstick, and surreal vignettes...

    saw Elliot Reid
    Elliot Reid
    Dr. Elliot Reid is a fictional character played by Sarah Chalke in the American comedy-drama Scrubs. She has appeared in every episode during the first eight seasons except two Season 8 episodes, "My Last Words" and "My Lawyer's in Love"....

     doing research into the various types of therapy available to O.I. patients. Her co-fellow Charlie then developed a new "gene therapy" cure, putting Elliot out of work.
  • (2006) The TV show Bones
    Bones (TV series)
    Bones is an American crime drama television series that premiered on the Fox Network on September 13, 2005. The show is based on forensic anthropology and forensic archaeology, with each episode focusing on an FBI case file concerning the mystery behind human remains brought by FBI Special Agent...

    found a body of a victim in a tub of lye. This occurred during season two, episode 5 "The Truth in the Lye." The main character, Dr. Temperance "Bones" Brennan, discovers the victim had O.I., probably type I or IV. The victim's children had O.I.
    • In a 2009 episode of Bones titled A Night at the Bones Museum it is discovered that an ancient Egyptian had O.I. and so died of injuries from being thrown from a horse rather than being killed by his brother as long believed.
  • (2006) Episode 12, season 9, titled 'Wait and See' of the Australian medical soap All Saints
    All Saints (TV series)
    All Saints is an Australian medical drama which first screened on the Seven Network. The series debuted on 24 February 1998 and concluded its run on 27 October 2009...

    featured a plot involving a difficult young man with 'brittle bone disease'.
  • (2007) On the TV show 30 Rock
    30 Rock
    30 Rock is an American television comedy series created by Tina Fey that airs on NBC. The series is loosely based on Fey's experiences as head writer for Saturday Night Live...

    , season 1, Phoebe claims to have "avian bone syndrome."
  • (2007) Jeff "Joker" Moreau, pilot of the Systems Alliance spacecraft, the SSV Normandy in BioWare
    BioWare
    BioWare is a Canadian video game developer founded in February 1995 by newly graduated medical doctors Ray Muzyka, Greg Zeschuk, and Augustine Yip. BioWare is currently owned by American company Electronic Arts...

    's Mass Effect
    Mass Effect
    Mass Effect is an action role-playing game developed by BioWare for the Xbox 360 and Microsoft Windows by Demiurge Studios. The Xbox 360 version was released worldwide in November 2007 published by Microsoft Game Studios...

    game series, suffers from the condition which he calls by the informal name "Vrolik syndrome" (see History and alternative names above). In the first game, he notes that his condition is classed as being "moderate to severe" and that he is unable to walk without crutches or leg braces, but is seen walking without visible support (though with some difficulty and a hunched posture) during emergency in the second game due to fictional surgery he had to help his legs. He remarks that were he born a hundred years ago, he probably would not have made it past his first year.
  • (2009) Jodi Picoult
    Jodi Picoult
    Jodi Lynn Picoult is an American author. She was awarded the New England Bookseller Award for fiction in 2003. Picoult currently has some 14 million copies of her books in print worldwide.-Early life and education:...

     wrote Handle with Care
    Handle With Care (novel)
    Handle With Care is a novel by Jodi Picoult published in 2009. It debuted at #1 on The New York Times Best Seller list.-Main Plot:This story follows the life of a girl named Willow O'Keefe and her family. Willow suffers from Osteogenesis imperfecta, a disease also known as brittle bone syndrome...

    , a story about a little girl named Willow who has type III OI. The book shows how her disease has affected her life and the lives of those around her.
  • (2011) 9 year old Patrick Sharrock has a new house built for him and his family by Ty Pennington
    Ty Pennington
    Tygert Bruton "Ty" Pennington is an American television host, model, philanthropist and carpenter. He is most notable for being the host of Extreme Makeover: Home Edition which currently airs on ABC in the US and Ty's Great British Adventure, which airs on UKTV home in the UK and TV LAND...

     and the crew from Extreme Makeover: Home Edition
    Extreme Makeover: Home Edition
    Extreme Makeover: Home Edition is a reality television series providing home renovations for less fortunate families and community schools etc...


External links

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