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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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 572 free, full-text research articles on human participants. First 3 results:

Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™.
 

Author(s): Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D Schwartz, Maria Marlene de Souza Pires, Têmis Maria Félix

Journal:

 

Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy and physical therapy, as well as specific daily care practices. In addition, ...

Last Updated: 31 Dec 1969

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4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion.
 

Author(s): Roberta Besio, Giusy Iula, Nadia Garibaldi, Lina Cipolla, Simone Sabbioneda, Marco Biggiogera, Joan C Marini, Antonio Rossi, Antonella Forlino

Journal: Biochim. Biophys. Acta. 2018 05;1864(5 Pt A):1642-1652.

 

The clinical phenotype in osteogenesis imperfecta (OI) is attributed to the dominant negative function of mutant type I collagen molecules in the extracellular matrix, by altering its structure and function. Intracellular retention of mutant collagen has also been reported, but its ...

Last Updated: 31 Dec 1969

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Corrective osteotomy with retrograde Fassier-Duval nail in an osteogenesis imperfecta patient with bilateral genu valgum: A case report.
 

Author(s): Tsung-Yu Lin, Chen-Yu Yang, Shih-Chia Liu

Journal: Medicine (Baltimore). 2017 Nov;96(47):e8459.

 

The treatment of osteogenesis imperfecta (OI) requires a multidisciplinary approach to maximize function and reduce fracture incidence. The aim of this case report was to discuss an alternative surgical approach to stabilize a corrective osteotomy using the Fassier Duval (FD) system ...

Last Updated: 31 Dec 1969

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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 33 free, full-text review articles on human participants. First 3 results:

Unusual migration of a Kirschner wire in a patient with Osteogenesis Imperfecta: A case report.
 

Author(s): Taghi Baghdadi, Soroush Baghdadi, Kamel Dastoureh, Furqan Mohammed Yaseen Khan

Journal: Medicine (Baltimore). 2018 Aug;97(34):e11829.

 

Kirschner wires (K-wires) are the most commonly used implants in orthopedic surgery. Although complications are not uncommon, they are mostly benign in nature and easily managed. While migration of K-wires is a rare complication, fatal outcomes have been reported. A review of the ...

Last Updated: 31 Dec 1969

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Muscle abnormalities in osteogenesis imperfecta.
 

Author(s): L N Veilleux, P Trejo, F Rauch

Journal: J Musculoskelet Neuronal Interact. 2017 Jun;17(2):1-7.

 

Osteogenesis imperfecta (OI) is mainly characterized by bone fragility but muscle abnormalities have been reported both in OI mouse models and in children with OI. Muscle mass is decreased in OI, even when short stature is taken into account. Dynamic muscle tests aiming at maximal ...

Last Updated: 31 Dec 1969

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WHOLE-BODY VIBRATION EXERCISE IMPROVES FUNCTIONAL PARAMETERS IN PATIENTS WITH A SYSTEMATIC REVIEW WITH A SUITABLE APPROACH.
 

Author(s): Danubia C Sá-Caputo, Carla da F Dionello, Éric Heleno F F Frederico, Laisa L Paineiras-Domingos, Cintia Renata Sousa-Gonçalves, Danielle S Morel, Eloá Moreira-Marconi, Marianne Unger, Mario Bernardo-Filho

Journal:

 

Patients with (OI) have abnormal bone modelling and resorption. The bone tissue adaptation and responsivity to dynamic and mechanical loading may be of therapeutic use under controlled circumstances. Improvements due to the wholebody vibration (WBV) exercises have been reported in ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 19 Jan 2018

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BBD Longitudinal Study of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 19 Jan 2018

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Open-label Extension Denosumab Study in Children and Young Adults With Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta (OI)

 

Last Updated: 16 Aug 2018

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