Also called: Also called: Brittle bone disease, OI
Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine and hearing loss. The cause is a gene defect that affects how you make collagen, a protein that helps make bones strong. Usually you inherit the faulty gene from a parent. Sometimes, it is due to a mutation, a random gene change.
OI can range from mild to severe and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime. There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces and surgery.
National Institute of Arthritis and Musculoskeletal and Skin Diseases
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Genetics Home Reference: Osteogenesis imperfecta
(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta
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What Is Osteogenesis Imperfecta?
(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/bone/Osteogenesis_Imperfecta/osteogenesis_imperfecta_ff.asp
- Osteogenesis Imperfecta(American Academy of Orthopaedic Surgeons) - http://orthoinfo.aaos.org/topic.cfm?topic=A00051
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Osteogenesis Imperfecta(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/default.asp
- Nutrition and OI(Osteogenesis Imperfecta Foundation) - Links to PDF - http://www.oif.org/site/DocServer/Nutrition.pdf?docID=7216
- Social and Emotional Issues of Living with OI(Osteogenesis Imperfecta Foundation) - http://www.oif.org/site/PageServer?pagename=PsychNeeds
- Adults Living with OI(Osteogenesis Imperfecta Foundation) - http://www.oif.org/site/PageServer?pagename=LivingWithOIAdults
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Exercise and Activity: Key Elements in the Management of OI(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/exercise_activity.asp
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OI Issues: Maintaining Health during the Adult Years(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/adult_years.asp
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OI Issues: Type I - Understanding the Mildest Form of Osteogenesis Imperfecta(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/type_1.asp
- Recessive Forms of OI(Osteogenesis Imperfecta Foundation) - Links to PDF - http://www.oif.org/site/DocServer/Recessive_OI.pdf?docID=7239
- Types of OI(Osteogenesis Imperfecta Foundation) - http://www.oif.org/site/PageServer?pagename=AOI_Types
- Broken Bones(Nemours Foundation) - http://kidshealth.org/parent/general/aches/broken_bones.html
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OI Issues: Constipation(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/constipation.asp
- OI Issues: Dental Care for Persons with OI(Osteogenesis Imperfecta Foundation) - http://www.oif.org/site/PageServer?pagename=Dental
- OI Issues: Hearing Loss(Osteogenesis Imperfecta Foundation) - http://www.oif.org/site/PageServer?pagename=HearLoss
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Respiratory Issues in OI - Links to PDF - http://www.oif.org/site/DocServer/Respiratory_Issues.pdf?docID=7621
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Talking with Your Orthopaedist: A Guide for Persons with OI(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/your_orthopaedist.asp
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Talking with Your Primary-Care Doctor: A Guide for Persons with OI(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/primary_care_doctor.asp
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What People with Osteogenesis Imperfecta Need to Know about Osteoporosis(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/about_osteoporosis.asp
- Understanding the Structure of Bones(Osteogenesis Imperfecta Foundation) - http://www.oif.org/site/PageServer?pagename=BoneStruct
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ClinicalTrials.gov: Osteogenesis Imperfecta(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Osteogenesis+Imperfecta%22
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Genetics Home Reference: Osteogenesis imperfecta(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta
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Learning about Osteogenesis Imperfecta(National Human Genome Research Institute) - http://www.genome.gov/25521839
- Bisphosphonates(Osteogenesis Imperfecta Foundation) - Links to PDF - http://www.oif.org/site/DocServer?docID=803
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New Gene Linked to Osteogenesis Imperfecta(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/News_and_Events/Spotlight_on_Research/2007/OI_gene.asp
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Standing in the gap. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18686921&tool=MedlinePlus
- Article: Bisphosphonates, osteonecrosis, osteogenesis imperfecta and dental extractions: a case series. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18644240&tool=MedlinePlus
- Article: Impaired pyridinoline cross-link formation in patients with osteogenesis imperfecta. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18600407&tool=MedlinePlus
- Osteogenesis Imperfecta -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=osteogenesis+imperfecta[majr]+AND+english[la]+AND+humans[mh]+NOT+(letter[pt]+OR+editorial[pt]+OR+case+reports[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
- Osteogenesis Imperfecta Glossary(Osteogenesis Imperfecta Foundation) - http://oif.convio.com/site/PageServer?pagename=Glossary
- Clinic Directory - Osteogenesis Imperfecta Foundation(Osteogenesis Imperfecta Foundation) - Links to PDF - http://www.oif.org/site/DocServer/clinicdirectory2006_rev02.21.07.pdf?docID=4981
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National Institute of Arthritis and Musculoskeletal and Skin Diseases - http://www.niams.nih.gov/
Also available in Spanish http://www.niams.nih.gov/Portal_En_Espanol/
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National Institutes of Health Osteoporosis and Related Bone Diseases~National Resource Center(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Bone/
- Osteogenesis Imperfecta Foundation - http://www.oif.org/site/PageServer
- Breakthrough: Newsletter of the Osteogenesis Imperfecta Association(Osteogenesis Imperfecta Foundation) - Links to PDF - http://www.oif.org/site/PageServer?pagename=Breakthrough
- Child Abuse or Osteogenesis Imperfecta?(Osteogenesis Imperfecta Foundation) - Links to PDF - http://www.oif.org/site/DocServer/_Child_Abuse__Child_Abuse_or_Ostegenesis_Imperfecta.pdf?docID=7189
- Osteogenesis Imperfecta(Children's Hospital Boston) - http://www.childrenshospital.org/az/Site1390/mainpageS1390P0.html
- Planning for Your Child's Surgery (Osteogenesis Imperfecta)(Osteogenesis Imperfecta Foundation) - http://www.oif.org/site/PageServer?pagename=ChildSurgery
- Learning How to Drive with OI(Osteogenesis Imperfecta Foundation) - Links to PDF - http://www.oif.org/site/DocServer/Learning_to_Drive.pdf?docID=7214
- Bone Diseases - http://www.nlm.nih.gov/medlineplus/bonediseases.html
- Connective Tissue Disorders - http://www.nlm.nih.gov/medlineplus/connectivetissuedisorders.html
- Bones, Joints and Muscles - http://www.nlm.nih.gov/medlineplus/bonesjointsandmuscles.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
The primary NIH organization for research on Osteogenesis Imperfecta is the National Institute of Arthritis and Musculoskeletal and Skin Diseases - http://www.niams.nih.gov/