Osteogenesis Imperfecta

Roseanna Partridge

@rosksj

Osteogenesis imperfecta (OI) is a condition resulting from the body's inability to generate connective tissue or the generation of defective connective tissue. People with OI are prone to bone fractures. OI is also known as brittle bone disease or Lobstein syndrome.

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Roseanna Partridge

@rosksj

Osteogenesis imperfecta (OI) is a condition resulting from the body's inability to generate connective tissue or the generation of defective connective tissue. People with OI are prone to bone fractures. OI is also known as brittle bone disease or Lobstein syndrome.

Brittle Bone Disease (Osteogenesis Imperfecta) - Healthline

Learn about brittle bone disease and what causes it. Find information on the types, symptoms, and treatment options.
http://www.healthline.com/health/osteogenesis-imperfecta
Learning About Osteogenesis Imperfecta - Genome

OI occurs in approximately 1 in 20,000 individuals, including people diagnosed after birth. OI occurs with equal frequency among males and females and among racial and ethnic groups. Life expectancy varies depending on how severe the OI is, ranging from very brief (lethal form, OI type II) to average.
https://www.genome.gov/25521839/learning-about-osteogenesis-imperfecta/
Osteogenesis Imperfecta - NY Times Health Guide

Osteogenesis imperfecta is a condition causing extremely fragile bones.
http://www.nytimes.com/health/guides/disease/osteogenesis-imperfecta/overview.html
What Is Osteogenesis Imperfecta? - NIH

Fast facts: an easy-to-read series of publications for the public.
http://www.niams.nih.gov/health_info/bone/osteogenesis_imperfecta/osteogenesis_imperfecta_ff.asp
Fast Facts: Osteogenesis Imperfecta Foundation -OIF

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A classification system of different types of OI is commonly used to help describe how severely a person with OI is affected. For example, a person may have just a few or as many as several hundred fractures in a lifetime.
http://www.oif.org/site/PageServer?pagename=fastfacts
Osteogenesis imperfecta -Genetics Home Reference

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.
http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta
Osteogenesis Imperfecta -Wikipedia, the Free Encyclopedia

Wikipedia's information about Osteogenesis imperfecta.
https://en.wikipedia.org/wiki/Osteogenesis_imperfecta
Genetics of Osteogenesis Imperfecta: Background, Pathophysiology, Epidemiology -Medscape

Osteogenesis imperfecta (OI) is a disorder of bone fragility chiefly caused by mutations in the COL1A1 and COL1A2 genes that encode type I procollagen. Four types of osteogenesis imperfecta were originally described by Sillence in 1979, and are now used broadly as the Sillence Criteria.
http://emedicine.medscape.com/article/947588-overview
Learning About Osteogenesis Imperfecta

OI occurs in approximately 1 in 20,000 individuals, including people diagnosed after birth. OI occurs with equal frequency among males and females and among racial and ethnic groups. Life expectancy varies depending on how severe the OI is, ranging from very brief (lethal form, OI type II) to average.
https://www.genome.gov/25521839
Osteogenesis Imperfecta-OrthoInfo -AAOS

Osteogenesis imperfecta (OI) literally means "imperfectly formed bone." People with osteogenesis imperfecta have a genetic defect that impairs the body's ability to make strong bones.
http://orthoinfo.aaos.org/topic.cfm?topic=a00051
Osteogenesis Imperfecta -NORD (National Organization for Rare Disorders)

Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family.
https://rarediseases.org/rare-diseases/osteogenesis-imperfecta/
Osteogenesis ImperfectaÂ -Boston Children's Hospital

Learn more about Osteogenesis Imperfecta symptoms, diagnosis, and treatments from experts at Boston Children's, ranked best Children's Hospital by US News.
http://www.childrenshospital.org/conditions-and-treatments/conditions/osteogenesis-imperfecta
Orphanet: Osteogenesis Imperfecta

The portal for rare diseases and orphan drugs.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=666
Osteogenesis Imperfecta -WebMD

Important It is possible that the main title of the report Osteogenesis Imperfecta is not the name you expected.
http://www.webmd.com/children/osteogenesis-imperfecta-11141

Comments

Osteogenesis imperfecta (OI)
Other names	Brittle bone disease,^[1] Lobstein syndrome,^[1]^: 5 fragilitas ossium,^[2] Vrolik disease,^[1]^: 5 osteopsathyrosis idiopathica^[3]^: 347

Blue sclerae are a classic non-pathognomonic sign of osteogenesis imperfecta.
Pronunciation	/ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/^[4] OSS-tee-oh-JEN-ə-siss IM-pur-FEK-tə
Specialty	Pediatrics, medical genetics, orthopedics
Symptoms	Bones that break easily, blue tinge to the sclera (whites of the eye), short height, joint hypermobility, hearing loss^[5]
Onset	Birth
Duration	Long term
Causes	Genetic (autosomal dominant or de novo mutation)^[6]
Diagnostic method	Based on symptoms, DNA testing
Prevention	Pre-implantation genetic diagnosis
Management	Healthy lifestyle (exercise, no smoking), metal rods through the long bones
Medication	Bisphosphonates^[7]
Prognosis	Depends on the type
Frequency	1 in 15,000–20,000 people^[8]

Source : Wikipedia under CC-BY-SA license

Links
Media

Brittle Bone Disease (Osteogenesis Imperfecta) - Healthline

Learn about brittle bone disease and what causes it. Find information on the types, symptoms, and treatment options.
http://www.healthline.com/health/osteogenesis-imperfecta
Learning About Osteogenesis Imperfecta - Genome

OI occurs in approximately 1 in 20,000 individuals, including people diagnosed after birth. OI occurs with equal frequency among males and females and among racial and ethnic groups. Life expectancy varies depending on how severe the OI is, ranging from very brief (lethal form, OI type II) to average.
https://www.genome.gov/25521839/learning-about-osteogenesis-imperfecta/
Osteogenesis Imperfecta - NY Times Health Guide

Osteogenesis imperfecta is a condition causing extremely fragile bones.
http://www.nytimes.com/health/guides/disease/osteogenesis-imperfecta/overview.html
What Is Osteogenesis Imperfecta? - NIH

Fast facts: an easy-to-read series of publications for the public.
http://www.niams.nih.gov/health_info/bone/osteogenesis_imperfecta/osteogenesis_imperfecta_ff.asp
Fast Facts: Osteogenesis Imperfecta Foundation -OIF

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A classification system of different types of OI is commonly used to help describe how severely a person with OI is affected. For example, a person may have just a few or as many as several hundred fractures in a lifetime.
http://www.oif.org/site/PageServer?pagename=fastfacts
Osteogenesis imperfecta -Genetics Home Reference

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.
http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta
Osteogenesis Imperfecta -Wikipedia, the Free Encyclopedia

Wikipedia's information about Osteogenesis imperfecta.
https://en.wikipedia.org/wiki/Osteogenesis_imperfecta
Genetics of Osteogenesis Imperfecta: Background, Pathophysiology, Epidemiology -Medscape

Osteogenesis imperfecta (OI) is a disorder of bone fragility chiefly caused by mutations in the COL1A1 and COL1A2 genes that encode type I procollagen. Four types of osteogenesis imperfecta were originally described by Sillence in 1979, and are now used broadly as the Sillence Criteria.
http://emedicine.medscape.com/article/947588-overview
Learning About Osteogenesis Imperfecta

OI occurs in approximately 1 in 20,000 individuals, including people diagnosed after birth. OI occurs with equal frequency among males and females and among racial and ethnic groups. Life expectancy varies depending on how severe the OI is, ranging from very brief (lethal form, OI type II) to average.
https://www.genome.gov/25521839
Osteogenesis Imperfecta-OrthoInfo -AAOS

Osteogenesis imperfecta (OI) literally means "imperfectly formed bone." People with osteogenesis imperfecta have a genetic defect that impairs the body's ability to make strong bones.
http://orthoinfo.aaos.org/topic.cfm?topic=a00051
Osteogenesis Imperfecta -NORD (National Organization for Rare Disorders)

Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family.
https://rarediseases.org/rare-diseases/osteogenesis-imperfecta/
Osteogenesis ImperfectaÂ -Boston Children's Hospital

Learn more about Osteogenesis Imperfecta symptoms, diagnosis, and treatments from experts at Boston Children's, ranked best Children's Hospital by US News.
http://www.childrenshospital.org/conditions-and-treatments/conditions/osteogenesis-imperfecta
Orphanet: Osteogenesis Imperfecta

The portal for rare diseases and orphan drugs.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=666
Osteogenesis Imperfecta -WebMD

Important It is possible that the main title of the report Osteogenesis Imperfecta is not the name you expected.
http://www.webmd.com/children/osteogenesis-imperfecta-11141

Osteogenesis imperfecta (OI)
Other names	Brittle bone disease,^[1] Lobstein syndrome,^[1]^: 5 fragilitas ossium,^[2] Vrolik disease,^[1]^: 5 osteopsathyrosis idiopathica^[3]^: 347

Blue sclerae are a classic non-pathognomonic sign of osteogenesis imperfecta.
Pronunciation	/ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/^[4] OSS-tee-oh-JEN-ə-siss IM-pur-FEK-tə
Specialty	Pediatrics, medical genetics, orthopedics
Symptoms	Bones that break easily, blue tinge to the sclera (whites of the eye), short height, joint hypermobility, hearing loss^[5]
Onset	Birth
Duration	Long term
Causes	Genetic (autosomal dominant or de novo mutation)^[6]
Diagnostic method	Based on symptoms, DNA testing
Prevention	Pre-implantation genetic diagnosis
Management	Healthy lifestyle (exercise, no smoking), metal rods through the long bones
Medication	Bisphosphonates^[7]
Prognosis	Depends on the type
Frequency	1 in 15,000–20,000 people^[8]

Source : Wikipedia under CC-BY-SA license

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Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a condition resulting from the body's inability to generate connective tissue or the generation of defective connective tissue. People with OI are prone to bone fractures. OI is also known as brittle bone disease or Lobstein syndrome.

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