Osteogenesis imperfecta

Common Name(s)

Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. 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. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, as well as by genetic factors. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta" for support, advocacy or research.

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Children's Brittle Bone Foundation

The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public.

Last Updated: 15 Feb 2013

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Osteogenesis Imperfecta Foundation

We seek to improve the quality of life for people with OI through research to find treatments and a cure, education, awareness and mutual support.

Last Updated: 3 Dec 2012

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta" for support, advocacy or research.

Logo
Children's Brittle Bone Foundation

The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public.

http://www.cbbf.org

Last Updated: 15 Feb 2013

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Osteogenesis Imperfecta Foundation

We seek to improve the quality of life for people with OI through research to find treatments and a cure, education, awareness and mutual support.

http://www.oif.org

Last Updated: 3 Dec 2012

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Osteogenesis imperfecta" returned 534 free, full-text research articles on human participants. First 3 results:

[Osteogenesis imperfecta: about four cases in Ouagadougou (Burkina Faso)].
 

Author(s): Aïssata Kaboré, Aissata Cissé, Caroline Yonaba, Hamidou Savadogo, Sylvie Armelle Ouédraogo, Lassina Dao, Sonia Kaboret, Kisito Nagalo, Fla Koueta, Emile Bandré, Diarra Yé, Ludovic Kam

Journal:

 

Last Updated: 2 Feb 2016

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Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint Development of the OI/ECE Questionnaire.
 

Author(s): Maman Joyce Dogba, Noémi Dahan-Oliel, Laurie Snider, Francis H Glorieux, Michaela Durigova, Telma Palomo, Michel Cordey, Marie-Hélène Bédard, Christophe Bedos, Frank Rauch

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Despite the growing interest in understanding the psycho-social impact of rare genetic diseases, few studies examine this concept and even fewer seek to obtain feedback from families who have lived the experience. The aim of this project was to involve families of children living ...

Last Updated: 23 Jan 2016

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Osteogenesis Imperfecta A Tale of 50 Years.
 

Author(s): Preeti Singh, Anju Seth

Journal: Indian Pediatr. 2015 Dec;52(12):1073-4.

 

Last Updated: 30 Dec 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Osteogenesis imperfecta" returned 29 free, full-text review articles on human participants. First 3 results:

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.
 

Author(s): Maman Joyce Dogba, Frank Rauch, Erin Douglas, Christophe Bedos

Journal:

 

Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on ...

Last Updated: 14 Jul 2015

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What is new in genetics and osteogenesis imperfecta classification?
 

Author(s): Eugênia R Valadares, Túlio B Carneiro, Paula M Santos, Ana Cristina Oliveira, Bernhard Zabel

Journal: J Pediatr (Rio J). ;90(6):536-41.

 

Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification.

Last Updated: 2 Dec 2014

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Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
 

Author(s): Joan C Marini, Adi Reich, Simone M Smith

Journal: Curr. Opin. Pediatr.. 2014 Aug;26(4):500-7.

 

Osteogenesis imperfecta or 'brittle bone disease' has mainly been considered a bone disorder caused by collagen mutations. Within the last decade, however, a surge of genetic discoveries has created a new paradigm for osteogenesis imperfecta as a collagen-related disorder, where most ...

Last Updated: 11 Jul 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta; Brittle Bone Disorders

 

Last Updated: 9 Jun 2016

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BBD Longitudinal Study of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 12 Sep 2016

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Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Dwarfism; Osteogenesis Imperfecta

 

Last Updated: 31 Aug 2016

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