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osteogenesis imperfecta

 
Medical Encyclopedia:

Osteogenesis Imperfecta

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Definition

Osteogenesis imperfecta (OI) is a group of genetic diseases of collagen in which the bones are formed improperly, making them fragile and prone to breaking.

Description

Collagen is a fibrous protein material. It serves as the structural foundation of skin, bone, cartilage, and ligaments. In osteogenesis imperfecta, the collagen produced is abnormal and disorganized. This results in a number of abnormalities throughout the body, the most notable being fragile, easily broken bones.

There are four forms of OI, Types I through IV. Of these, Type II is the most severe, and is usually fatal within a short time after birth. Types I, III, and IV have some overlapping and some distinctive symptoms, particularly weak bones.

Evidence suggests that OI results from abnormalities in the collagen gene COL1A1 or COL1A2, and possibly abnormalities in other genes. In OI Type I, II, and III, the gene map locus is 17q21.31-q22, 7q22.1, and in OI Type IV, the gene map locus is 17q21.31-q22.

In OI, the genetic abnormality causes one of two things to occur. It may direct cells to make an altered collagen protein and the presence of this altered collagen causes OI Type II, III, or IV. Alternately, the dominant altered gene may fail to direct cells to make any collagen protein. Although some collagen is produced by instructions from the normal gene, an overall decrease in the total amount of collagen produced results in OI Type I.

A child with only one parent who is a carrier of a single altered copy of the gene has no chance of actually having the disease, but a 50% chance of being a carrier.

If both parents have OI caused by an autosomal dominant gene change, there is a 75% chance that the child will inherit one or both OI genes. In other words, there is a 25% chance the child will inherit only the mother's OI gene (and the father's unaffected gene), a 25% chance the child will inherit only the father's OI gene (and the mother's unaffected gene), and a 25% chance the child will inherit both parents' OI genes. Because this situation has been uncommon, the outcome of a child inheriting two OI genes is hard to predict. It is likely that the child would have a severe, possibly lethal, form of the disorder.

About 25% of children with OI are born into a family with no history of the disorder. This occurs when the gene spontaneously mutates in either the sperm or the egg before the child's conception. No triggers for this type of mutation are known. This is called a new dominant mutation. The child has a 50% chance of passing the disorder on to his or her children. In most cases, when a family with no history of OI has a child with OI, they are not at greater risk than the general population for having a second child with OI, and unaffected siblings of a person with OI are at no greater risk of having children with OI than the general population.

In studies of families into which infants with OI Type II were born, most of the babies had a new dominant mutation in a collagen gene. In some of these families, however, more than one infant was born with OI. Previously, researchers had seen this recurrence as evidence of recessive inheritance of this form of OI. More recently, however, researchers have concluded that the rare recurrence of OI to a couple with a child with autosomal dominant OI is more likely due to gonadal mosaicism. Instead of mutation occurring in an individual sperm or egg, it occurs in a percentage of the cells that give rise to a parent's multiple sperm or eggs. This mutation, present in a percentage of his or her reproductive cells, can result in more than one affected child without affecting the parent with the disorder. An estimated 2%–4% of families into which an infant with OI Type II is born are at risk of having another affected child because of gonadal mosaicism.

— Jennifer F. Wilson, MS


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Dictionary: osteogenesis im·per·fec·ta   (ĭm'pər-fĕk'tə) pronunciation
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n.
A hereditary disease characterized by abnormally brittle, easily fractured bones.

[New Latin : OSTEOGENESIS + Latin imperfecta, feminine of imperfectus, incomplete.]


Britannica Concise Encyclopedia:

osteogenesis imperfecta

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osteogenesis imperfecta
Group of connective-tissue diseases in which the bones are very fragile. Several forms probably reflect different degrees of expression of the same disorder. Persons with osteogenesis imperfecta type I are normal at birth, but fractures occur easily; in van der Hoeve syndrome the sclerae are bluish, bone deformities in the skull cause deafness, double-jointedness occurs, and skin is abnormally thin. Babies with osteogenesis imperfecta type II, if not stillborn, are born with fractures, and fractures continue to occur, causing severe crippling; survival to adulthood is rare.

For more information on osteogenesis imperfecta, visit Britannica.com.

Dental Dictionary:

osteogenesis imperfecta

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(os′tē ōjen′əsis)
n

A congenital disease of unknown cause characterized by fragile, brittle, and easily fractured bones; presumed to stem from a failure in the formation of bone matrix. Variants are often hereditary or familial and include manifestations such as blue sclerae, dentinogenesis imperfecta, and otosclerosis. Also known as brittle bone disease, fragilitas ossium, Lobstein’s disease, osteopsathyrosis idiopathica.

Children's Health Encyclopedia:

Osteogenesis Imperfecta

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Definition

Osteogenesis imperfecta (OI) is a group of genetic diseases in which the bones are formed improperly, making them fragile and prone to breaking.

Description

Collagen is a fibrous protein material that serves as the structural foundation of skin, bone, cartilage, and ligaments. In osteogenesis imperfecta, the collagen produced is abnormal and disorganized, which results in a number of abnormalities throughout the body, the most notable being fragile, easily broken bones.

There are four forms of OI, types I through IV. Of these, type II is the most severe and is usually fatal within a short time after birth. Types I, III, and IV have some overlapping and some distinctive symptoms, with the hallmark symptom being fragile bones.

OI is usually inherited as an autosomal dominant condition. In autosomal dominant inheritance, a single abnormal gene on one of the autosomal chromosomes (one of the first 22 non-sex chromosomes) from either parent can cause the disease. Only one parent needs to be a carrier in order for the child to inherit the disease. The parent affected by OI will have one abnormal gene and one normal gene. A child who has one parent with the disease therefore has a 50 percent chance of also inheriting the disease.

If both parents have OI caused by an autosomal dominant gene change, there is a 75 percent chance that the child will inherit one or both OI genes. In other words, there is a 25 percent chance of inheriting a faulty gene from the mother and a normal gene from the father, a 25 percent chance of inheriting a normal gene from the mother and a faulty gene from the father, a 25 percent chance of inheriting faulty genes from both parents, and a 25 percent chance of inheriting normal genes from both parents. It is difficult to predict the severity of OI in a child who has inherited two copies of the faulty gene because of its rarity.

There is no family history of OI in about 25 percent of children born with the disease. This occurs as a result of a spontaneous mutation of the gene in either the sperm or egg. The cause of such mutations is not known. Called new dominant mutation, the affected child subsequently has a 50 percent of passing the abnormal gene to his or her children. The risk of normal parents having a second child with OI, or of normal siblings going on to have affected children, does not appear to be greater than that of the general population.

In studies of families into which infants with OI type II were born, most of the babies had a new dominant mutation in a collagen gene. In some of these families, however, more than one infant was born with OI. Previously, researchers had seen this recurrence as evidence of recessive inheritance of OI type II. Subsequently, however, researchers concluded that the rare recurrence of OI to a couple with a child with autosomal dominant OI is more likely due to gonadal mosaicism. Instead of mutation occurring in an individual sperm or egg, it occurs in a percentage of the cells that give rise to a parent's multiple sperm or eggs. This mutation, present in a percentage of his or her reproductive cells, can result in more than one affected child without affecting the parent with the disorder. An estimated 2 percent to 4 percent of families into which an infant with OI type II is born are at risk of having another affected child because of gonadal mosaicism.

Demographics

OI affects equal numbers of males and females. It occurs in about one of every 20,000 births.

Causes and Symptoms

Evidence suggests that OI results from abnormalities in the collagen gene COL1A1 or COL1A2 and possibly abnormalities in other genes. In OI, the genetic abnormality causes one of two things to occur. It may direct cells to make an altered collagen protein and the presence of this altered collagen causes OI type II, III, or IV. Alternately, the dominant altered gene may fail to direct cells to make any collagen protein. Although some collagen is produced by instructions from the normal gene, an overall decrease in the total amount of collagen produced results in OI type I.

Type I

OI type I is the most common and mildest type. Among the common features of type I are the following:

  • Bones are predisposed to fracture, with most fractures occurring before puberty; people with OI type I typically have about 20 to 40 fractures before puberty.
  • Stature is normal or near-normal.
  • Joints are loose and muscle tone is low.
  • Sclerae (whites of the eyes) have blue, purple, or gray tint.
  • Face shape is triangular.
  • Tendency toward scoliosis (a curvature of the spine) is present.
  • Bone deformity is absent or minimal.
  • Dentinogenesis imperfecta may occur, causing brittle teeth.
  • Hearing loss is a possible symptom, often beginning in early 20s or 30s.
  • Structure of collagen is normal but the amount is lower than normal.

Type Ii

Sometimes called the lethal form, type II is the most severe form of OI. Among the common features of type II are the following:

  • Frequently, OI type II is lethal at or shortly after birth, often as a result of respiratory problems.
  • Fractures are numerous and bone deformity is severe.
  • Stature is small with underdeveloped lungs.
  • Collagen is formed improperly.

Type Iii

Among the common features of type III are the following:

  • Bones fracture easily (Fractures are often present at birth, and x rays may reveal healed fractures that occurred before birth; people with OI type III may have more than 100 fractures before puberty.)
  • Stature is significantly shorter than normal.
  • Sclerae have blue, purple, or gray tint.
  • Joints are loose and muscle development is poor in arms and legs.
  • Rib cage is barrel-shaped.
  • Face shape is triangular.
  • Scoliosis (a curvature of the spine) is present.
  • Respiratory problems are possible.
  • Bones are deformed and deformity is often severe.
  • Dentinogenesis imperfecta may occur.
  • Hearing loss is possible.
  • Collagen is formed improperly.

Type Iv

OI type IV falls between type I and type III in severity. Among the common features of type IV are the following:

  • Bones fracture easily, with most fractures occurring before puberty.
  • Stature is shorter than average.
  • Sclerae are normal in color, appearing white or near-white.
  • Bone deformity is mild to moderate.
  • Scoliosis (curvature of the spine) is likely.
  • Rib cage is barrel-shaped.
  • Face is triangular.
  • Dentinogenesis imperfecta may occur.
  • Hearing loss is possible.
  • Collagen is formed improperly.

When to Call the Doctor

Parents should contact a healthcare professional if their child exhibits any of the symptoms of OI, particularly a tendency to fracture bones easily.

Diagnosis

It is often possible to diagnose OI solely on clinical features and x-ray findings. Collagen or DNA tests may help confirm a diagnosis of OI; test results may take several weeks to confirm. Approximately 10 to 15 percent of individuals with mild OI who have collagen testing, and approximately 5 percent of those who have genetic testing, test negative for OI despite having the disorder.

Diagnosis is usually suspected when a baby has bone fractures after having suffered no apparent injury. Another indication is small, irregular, isolated bones in the sutures between the bones of the skull (wormian bones). Sometimes the bluish sclerae serve as a diagnostic clue. Unfortunately, because of the unusual nature of the fractures occurring in a baby who is not yet mobile, some parents have been accused of child abuse before the actual diagnosis of osteogenesis imperfecta was reached.

Prenatal Diagnosis

Testing is available to assist in prenatal diagnosis. Women with OI who become pregnant or women who conceive a child with a man who has OI may wish to explore prenatal diagnosis. Because of the relatively small risk (2–4%) of recurrence of OI type II in a family, families may opt for ultrasound studies to determine if a developing fetus has the disorder.

Ultrasound is the least invasive procedure for prenatal diagnosis and carries the least risk. Using ultrasound, a doctor can examine the fetus's skeleton for bowing of the leg or arm bones, fractures, shortening, or other bone abnormalities that may indicate OI. Different forms of OI may be detected by ultrasound in the second trimester. When OI occurs as a new dominant mutation and is found inadvertently on ultrasound, it may be difficult to confirm the diagnosis until after delivery since other genetic conditions can cause bowing and/or fractures prenatally.

Chorionic villus sampling is a procedure that obtains a sampling of cells from the placenta for testing. Examination of fetal collagen proteins in the tissue can reveal information about the quantitative or qualitative collagen defects that leads to OI. When a parent has OI, it is necessary for the affected parent to have the results of his or her own collagen test available. Chorionic villus sampling can be performed at ten to 12 weeks of pregnancy.

Amniocentesis is a procedure that involves inserting a thin needle into the uterus, into the amniotic sac, and withdrawing a small amount of amniotic fluid. Genetic material can be extracted from the fetal cells contained in the amniotic fluid and tested for the specific mutation known to cause OI in that family. This technique is useful only when the mutation causing OI in a particular family has been identified through previous genetic testing of affected family members, including previous pregnancies involving a baby with OI. Amniocentesis is performed at 16 to 18 weeks of pregnancy.

Treatment

There are no treatments available to cure OI, nor to prevent most of its complications. Most treatments are aimed at treating the fractures and bone deformities caused by OI. Splints, casts, braces, and rods are all used. Rodding is a surgical procedure in which a metal rod is implanted within a bone (usually the long bones of the thigh and leg). This surgery is performed when bowing or repeated fractures of these bones has interfered with a child's ability to walk.

Other treatments include hearing aids and early capping of teeth. Patients may require the use of a walker or wheelchair. Pain may be treated with a variety of medications. Exercise is encouraged as a means to promote muscle and bone strength. Swimming is a form of exercise that puts a minimal amount of strain on muscles, joints, and bones. Walking is encouraged for those who are able.

Alternative Treatment

Alternative treatment such as acupuncture, naturopathic therapies, hypnosis, relaxation training, visual imagery, and biofeedback have all been used to try to decrease the constant pain of fractures.

Nutritional Concerns

Smoking, excessive alcohol and caffeine consumption, and steroid medications may deplete bone and exacerbate bone fragility.

Prognosis

The lifespan of people with OI types I, III, and IV is not generally shortened. The prognosis for people with these types of OI is quite variable, depending on the severity of the disorder and the number and severity of the fractures and bony deformities.

Fifty percent of all babies with OI type II are stillborn. The rest of these babies usually die within a very short time after birth. In the early 2000s, some people with type II have lived into young adulthood.

Prevention

As a congenital birth defect, OI cannot be prevented. Individuals at risk of having a child with OI should be encouraged to undergo genetic counseling to more accurately determine their chances of having a child with OI. The risk of fractures can be minimized with bone- and muscle-strengthening exercises, rehabilitative therapy, and use of leg braces.

Nutritional Concerns

Because the symptoms of OI are caused by collagen abnormalities and not a calcium deficiency (such as in osteoporosis), supplementation of vitamins or minerals will not cure the disease. To prevent bone loss related to calcium deficiency, which could exacerbate the fragility of bones, it is important that children with OI consume an adequate amount of calcium (generally 500 mg for children ages one to three, 800 mg for children ages four to eight, and 1,300 mg a day for preteens and teenagers).

Parental Concerns

In cases in which OI is not diagnosed at birth, a child may experience numerous fractures of seemingly unexplained cause, leading healthcare providers to suspect the child is being abused. Once a child has been diagnosed, it may be helpful for parents to carry with them a letter from the child's healthcare provider detailing the diagnosis in order to facilitate care in an emergency.

Resources

Books

Marini, Joan C. "Osteogenesis Imperfecta." In Nelson Textbook of Pediatrics, 17th ed. Philadelphia: Saunders, 2004.

Pyeritz, Reed Edwin. "Osteogenesis Imperfecta Syndromes." In Cecil Textbook of Medicine, 21st ed. Edited by Lee Goldman et al. Philadelphia: Saunders, 2000.

Shapiro, Jay R. "Heritable Disorders of the Type I Collagen Family." In Kelley's Textbook of Rheumatology, 6th ed. Edited by Shaun Ruddy et al. Philadelphia: Saunders, 2001.

Periodicals

Kocher, M. S., and J. R. Kasser. "Orthopaedic aspects of child abuse." Journal of the American Academy of Orthopedic Surgery 8 (January-February 2000): 10+.

Niyibizi, C., et al. "Potential of gene therapy for treating osteogenesis imperfecta." Clinical Orthopedics 379 (October 2000): S126+.

Smith, R. "Severe osteogenesis imperfecta: new therapeutic options?" British Medical Journal 322 (January 13, 2001): 63+.

Wacaster, Priscilla. "Osteogenesis Imperfecta." Exceptional Parent 30 (April 2000): 94+.

Organizations

Children's Brittle Bone Foundation. 7701 95th St., Pleasant Prairie, WI 53158. Web site: www.cbbf.org.

Osteogenesis Imperfecta Foundation. 804 W. Diamond Ave., Suite 210, Gaithersburg, MD 20878. Web site: www.oif.org.

Web Sites

"Osteogenesis Imperfecta." National Institutes of Health Osteoporosis and Related Bone Diseases—National Resource Center, July 2004. Available online at www.osteo.org/oi.html (accessed January 16, 2005).

[Article by: Jennifer F. Wilson, MS Stephanie Dionne Sherk]


Wikipedia:

Osteogenesis imperfecta

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Osteogenesis imperfecta
Classification and external resources
ICD-10 Q78.0
ICD-9 756.51
DiseasesDB 9342
MedlinePlus 001573
eMedicine ped/1674
MeSH D010013

Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease, or "Lobstein syndrome"[1]) 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.[2] This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple 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 [3]. 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 [4]. 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 [5]. 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 is an autosomal dominant defect. Most people with OI receive it from a parent but it can be an individual (de novo or "sporadic") mutation.

Contents

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
Type I mild COL1A1, COL1A2 166240 (IA), 166200 (IB)
Type II severe and usually lethal in the perinatal period COL1A1, COL1A2, CRTAP 166210 (IIA), 610854 (IIB)
Type III considered progressive and deforming COL1A1, COL1A2 259420
Type IV deforming, but with normal scleras COL1A1, COL1A2 166220
Type V shares the same clinical features of IV, but has unique histologic findings ("mesh-like") unknown 610967
Type VI shares the same clinical features of IV, but has unique histologic findings ("fish scale") unknown 610968
Type VII associated with cartilage associated protein CRTAP 610682
Type VIII associated with the protein leprecan LEPRE1 610915

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 (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.[citation needed]

Type II

Collagen is not of a sufficient quality or quantity

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 quantity is sufficient but is not of a high enough quality

  • 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 (the 'whites' of the eyes)
  • 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.

Type V

OI Type V in an adult
OI Type V in a child

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 [6].

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

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

Type VII

Mutations in the gene CRTAP causes this type. [7]

Type VIII

OI caused by mutation in the gene LEPRE1 is classified as type VIII. [7]

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 women experiencing brittleness of bones due to osteoporosis. Higher levels of effectiveness apparently are to be seen in the pill form versus the IV form, but results seem inconclusive.[citation needed] 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 studied, although it is often used in preteens, instead of Pamidronate.[citation needed]

Bone infections 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 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, 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,[8] zoledronic acid).

BP therapy is being used increasingly for the treatment of OI. It has proven efficiency in reducing fracture rates in children,[9] however only a trend towards decreased fracture was seen in a small randomized study in adults.[10] 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 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.[11] 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 can 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.

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[12] and has been the usual medical term in the twentieth century to present. The current four type system began with Sillence in 1979.[13] An older system deemed less severe types "Osteogenesis Imperfecta Tarda" while more severe forms were deemed "Osteogenesis Imperfecta Congenita."[14] 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. Jean 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.[15]

Variability of frequency in groups

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.[16]. 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.

Noted people with osteogenesis imperfecta

Historical figures whose OI status is disputed

Portrayal in popular culture

Figures in film and television depicted as having osteogenesis imperfecta include:

  • (1998) 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. Kanga featured on Channel 4 documentaries 'Taboo' and 'Double the Trouble, Twice the Fun,' exploring religion, sexuality and disability.
  • (1999) The ER episode "Point of Origin" had a subplot featuring an anonymous child with the condition.[36]
  • (2000) The film Unbreakable features a character played by Samuel L. Jackson 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 Amélie; 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, has the disease. They may have been selected, in part, due to the OIF.[37]
  • (2004) Nabil Shaban presented a documentary about the Viking king Ivar the Boneless, who may have suffered the same condition as Shaban himself
  • (2005) The movie Fragile features a child with this condition.
  • (2006) The fifth season of the series Scrubs saw Elliot Reid 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. [38]
  • (2006) The TV show Bones 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.[39]
    • 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.
  • (2007) On the TV show 30 Rock, season 1, Jack's girlfriend Phoebe claims to have "avian bone syndrome."
  • (2007) Jeff "Joker" Moreau, pilot of the Systems Alliance spaceship, the SSV Normandy in the 2007 game Mass Effect, suffers from the condition which he calls by the informal name "Vrolik Syndrome" (see History and alternative names above). However, in the game, the condition only affects his leg bones.
    • Mass Effect 2 (2010) sees the return on Jeff "Joker" Moreau as pilot of the SSV Normandy SR-2. In the opening of the game, Commander Shepard is shown breaking his arm by merely grabbing it during an evacuation of the Normandy, as well as breaking a rib, 'or all of them', in a crash, suggesting that it effects more than just his legs, or that his condition has worsened. Nonetheless, Joker becomes briefly playable and has to perform risky tasks while the Normandy is being attacked.
  • (2009) Jodi Picoult wrote Handle with Care, a story about a little girl with OI and her family.

See also

References

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  3. ^ Gautieri A, Uzel S, Vesentini S, Redaelli A, Buehler MJ (2009). "Molecular and mesoscale disease mechanisms of Osteogenesis Imperfecta". Biophysical Journal 97 (3): 857-865. 
  4. ^ "Osteogenesis Imperfecta Foundation: Fast Facts". http://www.oif.org/site/PageServer?pagename=FastFacts. Retrieved 2007-07-05. 
  5. ^ Gautieri A, Uzel S, Vesentini S, Redaelli A, Buehler MJ (2009). "Molecular and mesoscale disease mechanisms of Osteogenesis Imperfecta". Biophysical Journal 97 (3): 857-865. 
  6. ^ Glorieux FH, Rauch F, Plotkin H, et al. (2000). "Type V osteogenesis imperfecta: a new form of brittle bone disease". J. Bone Miner. Res. 15 (9): 1650–8. doi:10.1359/jbmr.2000.15.9.1650. PMID 10976985. 
  7. ^ a b Genetics Home Reference: Genetic Conditions > Osteogenesis imperfecta (Reviewed November 2007)
  8. ^ Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R (1998). "Cyclic administration of pamidronate in children with severe osteogenesis imperfecta". N. Engl. J. Med. 339 (14): 947–52. doi:10.1056/NEJM199810013391402. PMID 9753709. 
  9. ^ DiMeglio LA, Peacock M (2006). "Two-year clinical trial of oral alendronate versus intravenous pamidronate in children with osteogenesis imperfecta". J. Bone Miner. Res. 21 (1): 132–40. doi:10.1359/JBMR.051006. PMID 16355282. 
  10. ^ Chevrel G, Schott AM, Fontanges E, et al. (2006). "Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial". J. Bone Miner. Res. 21 (2): 300–6. doi:10.1359/JBMR.051015. PMID 16418786. 
  11. ^ "Chicago Shriners Hospital - Osteogenesis imperfecta". http://www.shriners.com/Hospitals/Chicago/conditions/OI.aspx. Retrieved 2007-07-05. 
  12. ^ K. Buday, Beiträge zur Lehre von der Osteogenesis imperfecta (1895)
  13. ^ Sillence DO, Senn A, Danks DM (1979). "Genetic heterogeneity in osteogenesis imperfecta". J. Med. Genet. 16 (2): 101–16. doi:10.1136/jmg.16.2.101. PMID 458828. 
  14. ^ "Osteogenesis Imperfecta Foundation: Glossary". http://www.oif.org/site/PageServer?pagename=Glossary. Retrieved 2007-07-05. 
  15. ^ synd/1743 at Who Named It?
  16. ^ Viljoen D, Beighton P (1987). "Osteogenesis imperfecta type III: an ancient mutation in Africa?". Am. J. Med. Genet. 27 (4): 907–12. doi:10.1002/ajmg.1320270417. PMID 3425600. 
  17. ^ Cast: Michael J. Anderson
  18. ^ Michael J. Anderson - Trailer - Showtimes - Cast - Movies - New York Times
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  24. ^ Michel Petrucciani:Victory of the Spirit - International Herald Tribune
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  29. ^ Dallas - Movies - Willing and able
  30. ^ The New York Times
  31. ^ The Spokesman Review
  32. ^ Henri de Toulouse-Lautrec > Biography > Chronology
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  36. ^ "Point of Origin". http://www.erheadquarters.com/episodes/05/5109.htm. Retrieved 2007-07-05. 
  37. ^ "Working with Hollywood to Deliver Your Message to Millions". http://www.rwjf.org/files/publications/other/YourIssueReport.pdf. Retrieved 2007-07-05. 
  38. ^ "Scrubs -[scripts- "My Rite of Passage""]. http://scrubs.mopnt.com/scripts/502.php. Retrieved 2007-07-05. 
  39. ^ "Bones" (2005) - Episode list

External links


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Genetic disorder: Scleroprotein disease
Extracellular matrix
Keratinopathy/
(keratosis, keratoderma,
hyperkeratosis)
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