Osteogenesis Imperfecta - Wikipedia, The Free Encyclopedia

4/19/2015
Osteogenesis imperfecta - Wikipedia, the free encyclopedia
Osteogenesis imperfecta
From Wikipedia, the free encyclopedia
Osteogenesis imperfecta (OI),

also known as brittle bone
disease or Lobstein
Osteogenesis imperfecta
syndrome,[1] is a congenital
bone disorder characterized by
brittle bones that are prone to
fracture. People with OI are born
with defective connective tissue,
or without the ability to make it,
usually because of a deficiency
The classic blue sclerae of a person with osteogenesis imperfecta

Classification and external resources
of type I collagen.[2] Eight types

of OI can be distinguished. Most
cases are caused by mutations in
the COL1A1 and COL1A2 genes.
ICD-10
Q78.0
(http://apps.who.int/classifications/icd10/browse/2015/en#/Q78.0)
ICD-9
756.51 (http://www.icd9data.com/getICD9Code.ashx?
icd9=756.51)
Diagnosis of OI is based on the

clinical features and may be
confirmed by collagen or DNA
testing. There is no cure for OI.
Treatment is aimed at increasing
overall bone strength to prevent
fracture and maintain mobility.
OI occurs in about one per
20,000 live births.
DiseasesDB 9342 (http://www.diseasesdatabase.com/ddb9342.htm)

MedlinePlus 001573
(http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm)
eMedicine
ped/1674 (http://www.emedicine.com/ped/topic1674.htm)
Patient UK Osteogenesis imperfecta

(http://www.patient.co.uk/doctor/osteogenesis-imperfecta)
MeSH
D010013 (https://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?
field=uid&term=D010013)
Contents
1 Classification
1.1 Type I
1.2 Type II
1.3 Type III
1.4 Type IV
1.5 Type V
1.6 Type VI
1.7 Type VII
1.8 Type VIII
1.9 Other genes
2 Pathophysiology
http://en.wikipedia.org/wiki/Osteogenesis_imperfecta
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3 Diagnosis
4 Treatment
4.1
Bisphosphonates
4.2 Surgery
4.3 Physiotherapy
4.4 Physical aids
5 History
6 Epidemiology
7 Noted cases
7.1 Disputed
8 In media
9 Other animals
10 See also
11 References
12 External links
Classification
Of the eight different types of OI, type I is the most common, though the symptoms vary from person to
person.
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Type Description
Gene
Null
COL1A1
allele
mild
severe and usually lethal in the

perinatal period
II
COL1A1,
COL1A2,
OMIM
Mode of
inheritance
166240
(https://omim.org/entry/166240)
(IA), 166200
(IB)
166210
(IIA), 610854
(IIB)
autosomal
dominant,
60% de
novo[3]
III
considered progressive and

deforming
COL1A1,
COL1A2
259420
IV
deforming, but with normal

sclerae most of the time
COL1A1,
COL1A2
166220
IFITM5
610967
shares the same clinical features

of IV, but has unique histologic
findings ("mesh-like")
shares the same clinical features
of IV, but has unique histologic
findings ("fish scale")
V
VI
autosomal
dominant,
~100% de
novo[3]
autosomal
dominant,
~100% de
novo[3]
autosomal
dominant,
60% de
novo[3]
autosomal
dominant[3][4]
610968
SERPINF1 (https://omim.org/entry/610968)
autosomal
recessive[3]
autosomal
recessive[3]
autosomal
recessive
VII
associated with cartilage

associated protein
CRTAP
610682
VIII
severe to lethal, 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
Blue sclera in osteogenesis

imperfecta.
the defective Type I collagen not forming correctly.

Early loss of hearing in some children[5]
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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.
Type II
Collagen is not of a sufficient quality or quantity
Most cases die within the first year of life due to respiratory failure or intracerebral hemorrhage
Severe respiratory problems due to underdeveloped lungs
Severe bone deformity and small stature
Type II can be further subclassified into groups A, B, and 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[6]
Loose joints(double jointed)
Poor muscle tone in arms and legs
Discolouration of the sclera (the 'whites' of the eyes are blue)
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.
Lifespans 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
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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
Having the same clinical features as Type IV, it is 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.[7]
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. Other features of this condition
include radial head dislocation, long bone bowing and mixed hearing loss.
OI Type V in an
adult
At least some cases of this type are caused by mutations in the interferon induced
transmembrane protein 5 (IFITM5) gene.[4]
Type VI
With the same clinical features as Type IV, it is distinguished histologically by "fishscale" bone appearance. Type VI has recently been found to be caused by a loss of
function mutation in the SERPINF1 gene. SERPINF1, a member of the serpin family, is
also known as pigment epithelium derived factor (PEDF), the most powerful
endogenous antiangiogenic factor in mammals.
OI Type V in a
child
Type VII
In 2006, a recessive form called "Type VII" was discovered (phenotype severe to lethal). Thus far it seems
to be limited to a First Nations people in Quebec.[8] Mutations in the gene CRTAP causes this type.[9]
Type VIII
OI caused by mutation in the gene LEPRE1 is classified as type VIII.[9]
Other genes
A family with recessive osteogenesis imperfecta has been reported to have a mutation in the TMEM38B
gene on chromosome 9.[10] This gene encodes TRIC-B, a component of TRIC, a monovalent cation-specific
channel involved in calcium release from intracellular stores.
It is extremely likely that there are other genes associated with this disease that have yet to be reported.
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Pathophysiology
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 and the interaction between molecules, which are both compromised.[11] 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.[12] 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.[11] 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.
Most cases have been caused by mutations in the COL1A1 and COL1A2 genes. In the past several years,
there has been the identification of autosomal recessive forms.[13] Most people with OI receive it from a
parent but in 35% of cases it is an individual (de novo or "sporadic") mutation.
Diagnosis
There is no definitive test for OI. The diagnosis is usually suggested by the occurrence of bone fractures
with little trauma and the presence of other clinical features. Skin biopsy can be performed to determine the
structure and quantity of type I collagen. DNA testing can confirm the diagnosis, however it cannot exclude
it, because not all mutations causing OI are known and/or tested for. OI type II is often diagnosed by
ultrasound during pregnancy, where already multiple fractures and other characteristic features may be
present. Relative to control, OI cortical bone shows increased porosity, canal diameter, and connectivity in
micro-computed tomography.[14]
An important differential diagnosis of OI is child abuse, as both may present with multiple fractures in
various stages of healing. Differentiating them can be difficult, especially when no other characteristic
features of OI are present. Other differential diagnoses include rickets, osteomalacia, and other rare skeletal
syndromes.
Treatment
There is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and
maintain mobility. Bisphosphonates can increase bone mass, and reduce bone pain and fracture. In severe
cases, bones are surgically corrected, and rods are placed inside the bones, particularly to enable infants to
learn to walk.
Bone infections are treated as and when they occur with the appropriate antibiotics and antiseptics.
Bisphosphonates
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In 1998, a clinical trial demonstrated the effectiveness of intravenous pamidronate, a bisphosphonate which
had previously been used in adults to treat osteoporosis. In severe OI, pamidronate reduced bone pain,
prevented new vertebral fractures, reshaped previously fractured vertebral bodies, and reduced the number
of long-bone fractures.[15]
Although oral bisphosphonates are more convenient and cheaper, they are not absorbed as well, and
intravenous bisphosphonates are generally more effective, although this is under study. Some studies have
found oral and intravenous bisphosphonates, such as oral alendronate and intravenous pamidronate,
equivalent.[16] In a trial of children with mild OI, oral risedronate increased bone mineral densities, and
reduced nonvertebral fractures. However, it did not decrease new vertebral fractures.[17][18]
Bisphosphonates are less effective for OI in adults.[19]
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 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.[20] 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.
Physiotherapy
Physiotherapy is 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 to balance the muscles being
used and the bones 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.
History
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The condition, or types of it, has 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[21] and has been
the usual medical term in the 20th century to present. The current four type system began with Sillence in
1979.[22] An older system deemed less severe types "osteogenesis imperfecta tarda" while more severe
forms were deemed "osteogenesis imperfecta congenita."[23] 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.[24]
Epidemiology
In the United States, the incidence of osteogenesis imperfecta is estimated to be one per 20,000 live
births.[25] An estimated 20,000 to 50,000 people are affected by OI in the United States.
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.[26] However, a similar
pattern was found in segments of the Nigerian and South African populations. 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,[27][28] Tarah Lynne Schaeffer (Sesame Street)[29] and Atticus
Shaffer[30][31][32]
Leo Beuerman, subject of the documentary Leo Beuerman, which was nominated for the Academy
Award for Best Documentary (Short Subject).[33]
British actors Julie Fernandez,[34] Nabil Shaban,[35] and Kerry Ingram.[36]
Canadian actor Rick Howland[37] who is known for Lost Girl.
Danish actress and singer Pernille Vallentin.[38]
German philologist, actor, and founder of Die Deutsche Gesellschaft fr Osteogenesis Imperfecta,
Peter Radtke.[39]
British peer Nicky Chapman, Baroness Chapman[40]
Randy Guss, drummer for Toad the Wet Sprocket[41][42]
Hip-hop artist and producer Kalyn Heffernan[43]
American Olympic bronze medalist coxswain Doug Herland[44]
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British poet Christopher Hewitt,[45] namesake of the Christopher Hewitt Award.

Paralympic gold and bronze medalist in sledge hockey, Taylor Lipsett[46][47]
Paralympic bronze medalist in Wheelchair tennis at the 2012 Summer Paralympics, Jordanne
Whiley.[48][49]
Paralympic multiple medalist in shooting Josef Neumaier de:Josef Neumaier[50]
Zimbabwean marimba player Energy Maburutse[51][52]
Japanese countertenor singer Yoshikazu Mera
Jazz pianist Michel Petrucciani[53]
Parsi playwright Firdaus Kanga[54]
Guinness World Records' shortest man He Pingping[55]
Motivational speaker Sean Stephenson[56]
French speaking poet and novelist Philippe Rahmy,[57] Type IA
Australian reality TV personality Quentin Kenihan[58]
Australian comedian and journalist Stella Young.[59]
Lead singer of the Australian alternative rock group The White Room, Marc Collis[60]
Freyja Haraldsdottir, member of the Icelandic Constitutional Assembly of 2010.[61][62][63]
Italian journalist Franco Bomprezzi.[64]
Disputed
French artist Henri de Toulouse-Lautrec.[65] He was never diagnosed, and recent theories suggest that
he had a mild form of osteopetrosis instead.[66] Maroteaux and Lamy have suggested pyknodysostosis
as the explanation.
Viking invader of England, Ivar the Boneless: There is notable speculation about his physical
condition; but objective diagnosis is not possible since his skeleton was exhumed and burnt 200 years
after his death by William the Conquerer.[67]
In media
Figures in film, television, video games and novels depicted as having osteogenesis imperfecta include:
(2013) Robbie Novak a.k.a. Kid President, a motivational speaker and YouTube personality, suffers
from the disorder.[68] He often comments on his own ability to overcome it.[69]
Other animals
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In dogs, OI is an autosomal-recessive condition. In Golden Retrievers, it is caused by a mutation in the

COL1A1, and in Beagles, the COL1A2. A separate mutation in the SERPINH1 gene has been found to cause
the condition in Dachshunds.[70] Several mouse models of OI have been described, whereby the abnormal
gait 2 (AGA2) mouse line exhibits severe skeletal[71] and cardio-pulmonary[72] phenotypes due to a
carboxy-terminus mutation in the COL1A1 gene in the mouse.
See also
Brittle Bone Society
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External links
GeneReview/NCBI/NIH/UW entry on Osteogenesis
Imperfecta (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?
book=gene&part=oi)
Wikimedia Commons has

media related to
Osteogenesis imperfecta.
synd/1743 (http://www.whonamedit.com/synd.cfm/1743.html) at Who Named It?

Osteogenesis Imperfecta Overview
(http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/default.asp) NIH
Osteoporosis and Related Bone Diseases ~ National Resource Center
Type V Research (http://www.oif.org/site/PageServer?pagename=TypeVStudy), Osteogenesis
Imperfecta association
Retrieved from "http://en.wikipedia.org/w/index.php?title=Osteogenesis_imperfecta&oldid=656924231"
Categories: Abnormalities of dermal fibrous and elastic tissue Skeletal disorders Collagen disease
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Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Osteogenesis imperfecta (OI),

The classic blue sclerae of a person with osteogenesis imperfecta

of type I collagen.[2] Eight types

Diagnosis of OI is based on the

DiseasesDB 9342 (http://www.diseasesdatabase.com/ddb9342.htm)

Patient UK Osteogenesis imperfecta

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

severe and usually lethal in the

considered progressive and

deforming, but with normal

shares the same clinical features

associated with cartilage

severe to lethal, associated with

Blue sclera in osteogenesis

the defective Type I collagen not forming correctly.

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Slight protrusion of the eyes

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Bone deformity is mild to moderate

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

British poet Christopher Hewitt,[45] namesake of the Christopher Hewitt Award.

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

In dogs, OI is an autosomal-recessive condition. In Golden Retrievers, it is caused by a mutation in the

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

39. Osteogenesis Imperfecta Federation of Europe (http://www.oife.org/index.php/PT/dgoi/92-oife-members/173history-de)

46. "USA Hockey" (http://webcache.googleusercontent.com/search?

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Osteogenesis imperfecta - Wikipedia, the free encyclopedia

Wikimedia Commons has

synd/1743 (http://www.whonamedit.com/synd.cfm/1743.html) at Who Named It?

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