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Osteogenesis ImperfectaOsteogenesisAmelogenesis ImperfectaOsteogenesis, DistractionProcollagenCollagen Type ICollagenDentinogenesis ImperfectaGlycinePlatybasiaMutationSeverity of Illness IndexBone and BonesGenes, LethalBone MatrixFractures, SpontaneousPedigreeScleral DiseasesArthrogryposisCyclophilinsTropocollagenChondrodysplasia PunctataEhlers-Danlos SyndromeDiphosphonatesCalcification, PhysiologicSkinGenes, RecessiveOsteoblastsGenes, DominantFractures, BoneDental Enamel ProteinsFibroblastsProcollagen N-EndopeptidaseCyanogen BromideX-Ray MicrotomographyFemurInfant, NewbornBone Diseases, DevelopmentalBase SequenceBone DiseasesBone DensityMolecular Sequence DataSkullScleraDental Enamel HypoplasiaCapillary FragilityPhenotypeTibiaMatrix Metalloproteinase 20RibsOval Window, EarBone DevelopmentHomozygoteHeterozygoteFibrillar CollagensAllelesFetal ResearchBone Density Conservation AgentsCells, CulturedScoliosisHydroxylysineAmelogeninAlendronateCallositiesHSP47 Heat-Shock Proteins

Dentinogenesis imperfectaChildren with osteogenesisForm of osteogenesis imperfectaPatients with osteogenesis imperfectaGeneticDiagnosisForms of osteogenesis imperfectaSymptomsFracturesTreatment of osteogenesisBonesSevereShort statureMulticenter study to evaluateVariesImperfect bone formationDisease severityDisorderRecessiveDefectLethalRicketsScoliosisGeneticsCollagenAutosomal dominantBone fragilityBisphosphonateSystematic reviewMutationsMutationMildestDeformitiesManifestationsSubtypesIndividualsRadiographicTypesHeterogeneousVary in severityMobilityRadiologic

Dentinogenesis imperfecta12

• Type I is mild and nondeforming with normal height or short stature, blue sclera, and no dentinogenesis imperfecta (DI). (orpha.net)
• Children may have discolored and poorly developed teeth (called dentinogenesis imperfecta) depending on the type of osteogenesis imperfecta. (msdmanuals.com)
• Sclerae were white or faintly blue and dentinogenesis imperfecta was uniformly absent. (wiley.com)
• Osteogenesis imperfecta is a hereditary collagen disorder causing diffuse abnormal fragility of bone and is sometimes accompanied by sensorineural hearing loss, blue sclerae, dentinogenesis imperfecta, and joint hypermobility. (msdmanuals.com)
• The teeth may appear late (delayed dentition) and may be abnormal (called dentinogenesis imperfecta ). (pinnacleorthocentre.com)
• Blue sclerae and dentinogenesis imperfecta may contribute to diagnosis, but, may not be present in all cases. (pinnacleorthocentre.com)
• Apart from fragile bones, people with OI suffer from teeth problems - Dentinogenesis Imperfecta , hearing loss, muscle weakness, loose joints (joint laxity) and skeletal malformations. (targetwoman.com)
• This disease may be associated with dentinogenesis imperfecta, in which the dentin tissue is altered. (bvsalud.org)
• This study was conducted in order to familiarize health professionals with possible systemic manifestations of osteogenesis imperfecta associated with dentinogenesis imperfecta, as well as the oral aspects of this condition, since the severity of the disease is quite variable. (bvsalud.org)
• Among oral aspects, the brown staining of the teeth, partial obliteration of the root canal of lower incisors, as well as the displacement of enamel in some teeth confirmed the presence of dentinogenesis imperfecta. (bvsalud.org)
• OI is characterized by fractures with minimal or absent trauma, short stature, blue sclera, and dentinogenesis imperfecta. (ohsu.edu)
• Though Dentinogenesis imperfecta is not widespread, it is common in OI Type III. (giachinoplasticsurgery.com)

Children with osteogenesis10

• Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. (smw.ch)
• Modern approach to children with osteogenesis imperfecta. (smw.ch)
• Sometimes heart or lung diseases develop in children with osteogenesis imperfecta. (msdmanuals.com)
• The collagen in children with osteogenesis imperfecta is either formed in deficient quantities, or, is of abnormal quality. (pinnacleorthocentre.com)
• So in older children with osteogenesis imperfecta, bowing of the thigh (femur) and leg (tibia) bones are often seen. (pinnacleorthocentre.com)
• Additionally, spine deformities (kypho-scoliosis) are seen in children with osteogenesis imperfecta. (pinnacleorthocentre.com)
• Children with osteogenesis imperfecta may also have blue sclerae (the part of the eyes which normally appear white). (pinnacleorthocentre.com)
• Children with osteogenesis imperfecta may also have hearing loss due to compression of the auditory nerve in the auditory foramen or due to abnormal bone remodeling in the middle ear (otosclerosis) . (pinnacleorthocentre.com)
• The long-term effects of switching from active intravenous bisphosphonate treatment to low-dose maintenance therapy in children with osteogenesis imperfecta. (cdc.gov)
• Mid-term Results of Femoral and Tibial Osteotomies and Fassier-Duval Nailing in Children With Osteogenesis Imperfecta. (childrensmercy.org)

Form of osteogenesis imperfecta4

• Chu ML, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez F. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. (smw.ch)
• Researchers at the National Institutes of Health have discovered that a previously unexplained fatal form of Osteogenesis Imperfecta - a disorder that weakens bones and which may cause frequent fractures - results from a genetic defect in a protein involved in the production of collagen. (nih.gov)
• This discovery provides a basis for counseling families that have lost a child to this previously unexplained form of Osteogenesis Imperfecta," said Duane Alexander, Director of the NIH institute that conducted the study, the National Institute of Child Health and Human Development. (nih.gov)
• Type III is progressive and the most severe nonlethal form of osteogenesis imperfecta. (msdmanuals.com)

Patients with osteogenesis imperfecta5

• Multidisciplinary management improves quality of life for patients with osteogenesis imperfecta. (smw.ch)
• Ashournia H, Johansen FT, Folkestad L, Diederichsen AC, Brixen K. Heart disease in patients with osteogenesis imperfecta - A systematic review. (smw.ch)
• Hearing loss is present in 50 to 65% of all patients with osteogenesis imperfecta and may occur in any of the 4 main types. (msdmanuals.com)
• Efficacy of Bisphosphonates on Bone Mineral Density and Fracture Rate in Patients With Osteogenesis Imperfecta: A Systematic Review and Meta-analysis. (cdc.gov)
• From pediatric to adult care: strategic evaluation of a transition program for patients with osteogenesis imperfecta. (cdc.gov)

Genetic22

• Sillence DO, Senn A, Danks D. Genetic heterogeneity in osteogenesis imperfecta. (smw.ch)
• The weak tendons and fragile bones characteristic of osteogenesis imperfecta, or brittle bone disease, stem from a genetic mutation that causes the incorrect substitution of a single amino acid in the chain of thousands of amino acids making up a collagen molecule, the basic building block of bone and tendon. (mit.edu)
• Osteogenesis imperfecta (OI), also known as "brittle bone disease," is a rare genetic disorder that affects the bones. (upmc.com)
• Osteogenesis imperfecta (OI, or brittle bones disease) is a group of genetic disorders that mainly affect the bones. (dubaimobility.com)
• The genetic defect in osteogenesis imperfecta may either be inherited from one of the parents, or, may occur de novo in the affected child due to mutations in the concerned genes. (pinnacleorthocentre.com)
• Depending on the nature of genetic defect, osteogenesis imperfecta is of different types and severities (see below). (pinnacleorthocentre.com)
• Depending on the genetic defect and severity of clinical presentation, more than 20 different types of Osteogenesis imperfecta have been identified. (pinnacleorthocentre.com)
• Osteogenesis imperfecta or OI , also known as brittle bone disease , is a genetic disorder that is characterized by weak and fragile bones that break easily. (targetwoman.com)
• Osteogenesis imperfecta is caused by a genetic defect that disables the body to make strong bones. (targetwoman.com)
• Osteogenesis imperfecta (OI) is a rare inherited (genetic) bone disorder that is present at birth. (lluch.org)
• Introduction: Osteogenesis imperfecta is a rare genetic condition, which the main clinical manifestation is bone fragility with different degrees of severity. (bvsalud.org)
• We investigated the genetic mechanisms leading to osteogenesis imperfecta and identified the causative mutation in the SERPINH1 gene. (unibe.ch)
• Bisphosphonate therapy for osteogenesis imperfecta - A comprehensive guide to the use of bisphosphonates in the treatment of osteogenesis imperfecta, a genetic disorder characterized by brittle bones. (monettiapparel.com)
• Bisphosphonate therapy has emerged as a groundbreaking treatment for osteogenesis imperfecta (OI), a rare genetic disorder that affects the bones and causes them to be brittle and prone to fractures. (monettiapparel.com)
• Osteogenesis imperfecta (OI), is a rare genetic disorder characterized by fragile bones that are prone to fractures. (monettiapparel.com)
• Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a genetic disorder that impairs collagen production, resulting in fragile bones that break easily. (healthybp4u.com)
• Osteogenesis Imperfecta (OI) is a genetic disorder characterized by fragile bones that can easily break. (swhelper.org)
• Osteogenesis imperfecta (OI) is a rare genetic disorder. (harvard.edu)
• Osteogenesis imperfecta (OI) refers to a group of connective tissue disorders exhibiting both clinical and genetic heterogeneity that is characterized by qualitative and/or quantitative anomalies of collagen metabolism and manifests with increased bone fragility [1-3]. (kenkyugroup.org)
• Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma. (oiaustralia.org.au)
• From traumatic injuries due to car accidents, domestic violence, and service in combat to genetic malformation resulting from diseases like osteogenesis imperfecta, the burden of bone deficiencies is massive and rapidly increasing. (nyscf.org)
• Osteogenesis imperfecta is a genetic disorder characterized by brittle bones due to abnormalities in collagen synthesis. (onlinepaperresearch.com)

Diagnosis7

• Age at diagnosis depends on the severity of the disease. (orpha.net)
• After birth, doctors base the diagnosis of osteogenesis imperfecta on the symptoms and on a physical examination. (msdmanuals.com)
• Diagnosis of osteogenesis imperfecta is usually clinical, but there are no standardized criteria. (msdmanuals.com)
• Diagnosis of Osteogenesis imperfecta is established on the basis of clinical findings of repeated fractures, deformities of long bones of extremities and typical X-ray findings. (pinnacleorthocentre.com)
• The diagnosis of osteogenesis imperfecta type III was performed based on clinical and radiographic findings along with the patient's previous medical history. (bvsalud.org)
• Molecular confirmation of a clinical diagnosis of Osteogenesis Imperfecta. (ohsu.edu)
• A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients. (cdc.gov)

Forms of osteogenesis imperfecta3

• some amino acid substitutions for glycine create more severe forms of osteogenesis imperfecta. (mit.edu)
• The well-known forms of Osteogenesis Imperfecta (OI) result from a defect in the genes for type I collagen, which serves as a kind of molecular scaffolding that holds together bone, tendons, skin and other tissues. (nih.gov)
• For those with forms of osteogenesis imperfecta with mobility needs, a specialized power wheelchair, including smooth-riding suspension, is needed. (dubaimobility.com)

Symptoms8

• Symptoms, severity, and life expectancy vary by type. (upmc.com)
• There are many different symptoms of osteogenesis imperfecta. (upmc.com)
• If a child has frequent fractures and other symptoms of osteogenesis imperfecta, doctors may perform tests to diagnose the condition. (upmc.com)
• There is no cure for osteogenesis imperfecta, but treatment can help people manage their symptoms and live a healthier life. (upmc.com)
• What are the symptoms of osteogenesis imperfecta? (dubaimobility.com)
• The symptoms of osteogenesis imperfecta may look like other medical conditions. (lluch.org)
• Affected pups normally have to be put down because of the severity of the symptoms. (unibe.ch)
• These types range in severity of symptoms and the specific medical problems someone with OI may face. (swhelper.org)

Fractures7

• Osteogenesis imperfecta (OI) also called "brittle bones disease" is a congenital disorder characterized by fragile bones and repeated fractures occurring after trivial trauma. (pinnacleorthocentre.com)
• The disease has a wide spectrum of severity, with severely affected children sustaining fractures at birth, and, mildly affected children sustaining fractures during sports activities. (pinnacleorthocentre.com)
• The pre-dominant symptom of osteogenesis imperfecta is fragile bones and repeated fractures. (pinnacleorthocentre.com)
• A person may experience occasional fractures or may have multiple fractures throughout life depending upon the severity of Osteogenesis imperfecta present. (targetwoman.com)
• The severity of OI can vary widely, with some individuals experiencing frequent fractures and skeletal deformities. (healthybp4u.com)
• Severity of OI varies enormously from a normal life expectancy with slightly increased susceptibility to fractures to forms incompatible with life resulting to intrauterine or perinatal deaths [1]. (kenkyugroup.org)
• Osteogenesis imperfecta can result in frequent fractures, limiting mobility and affecting the ability to engage in physical activities. (onlinepaperresearch.com)

Treatment of osteogenesis3

• Optimal Treatment of Osteogenesis Imperfecta consists of a combination of medical treatment, orthopaedic treatment, appropriate splints and rehabilitation and specialists of all these fields should be involved in the case of of child with Osteogenesis Imperfecta. (pinnacleorthocentre.com)
• Update on the evaluation and treatment of osteogenesis imperfecta. (cdc.gov)
• Treatment of osteogenesis imperfecta in adults. (cdc.gov)

Bones8

• Osteogenesis imperfecta is a hereditary disorder that disrupts the proper formation of bones and makes bones abnormally fragile. (msdmanuals.com)
• Most people with osteogenesis imperfecta have fragile bones, and about 50 to 65% have hearing loss. (msdmanuals.com)
• Everyone with osteogenesis imperfecta has fragile bones. (dubaimobility.com)
• Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized primarily by fragile bones that result in fracture and bone deformity. (uwcpdx.org)
• May 6th is Wishbone Day , an international awareness day for Osteogenesis Imperfecta (OI), better known as "brittle bones. (swhelper.org)
• Osteogenesis imperfecta (OI) is a spectrum of connective tissue disorders characterized by bones that break easily with little or no apparent cause. (kenkyugroup.org)
• Osteogenesis imperfecta (OI) is a group of rare, inherited disorders caused by gene mutations resulting in fragile bones that break easily. (rarediseasesnetwork.org)
• Osteogenesis imperfecta is a condition causing extremely fragile bones. (medlineplus.gov)

Severe9

• Bisphosphonates are widely used in the treatment of moderate to severe osteogenesis imperfecta, from infancy to adulthood. (smw.ch)
• Montpetit K, Palomo T, Glorieux FH, Fassier F, Rauch F. Multidisciplinary Treatment of Severe Osteogenesis Imperfecta: Functional Outcomes at Skeletal Maturity. (smw.ch)
• Osteogenesis imperfecta can range from mild to severe. (msdmanuals.com)
• Type II osteogenesis imperfecta is the most severe type and causes death. (msdmanuals.com)
• Type III osteogenesis imperfecta is the most severe type that does not cause death. (msdmanuals.com)
• Type II (neonatal lethal type or osteogenesis imperfecta congenita) is the most severe and is lethal. (msdmanuals.com)
• Severe osteogenesis imperfecta can be detected in utero by level II ultrasonography. (msdmanuals.com)
• Retarded growth is a significant factor that distinguishes OI Type IV from OI Type I. Severity of the retardation may vary from moderate to severe. (giachinoplasticsurgery.com)
• OI varies in severity from person to person, ranging from a mild type to a severe type that causes death before or shortly after birth. (oiaustralia.org.au)

Short stature1

• Patients with type IV have moderate short stature, variable severity of scoliosis, grayish or white sclera, and some have DI. (orpha.net)

Multicenter study to evaluate1

• A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. (childrensmercy.org)

Varies2

• The long-term prognosis for those with osteogenesis imperfecta varies based on the type. (dubaimobility.com)
• However, the severity of the disease varies greatly. (medlineplus.gov)

Imperfect bone formation1

• Osteogenesis imperfecta means "imperfect bone formation. (upmc.com)

Disease severity1

• Due to considerable phenotypic variability, a classification was developed for OI subtypes based on clinical features and disease severity. (harvard.edu)

Disorder5

• Osteogenesis imperfecta (OI) is a disorder of bone fragility chiefly caused by mutations in the COL1A1 and COL1A2 genes, which encode type I procollagen. (medscape.com)
• The most widely used classification of osteogenesis imperfecta, published by Sillence et al in 1979, does not include additional forms of the disorder, which were discovered as a result of improvements in molecular diagnostics. (medscape.com)
• Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. (smw.ch)
• There are 19 known types of this disorder with a wide range of features and severities. (ohsu.edu)
• Osteogenesis imperfecta is a genetically and phenotypically heterogeneous disorder related to a defect or deficiency in the production of type I collagen. (nebraska.edu)

Recessive1

• Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. (smw.ch)

Defect3

• Osteogenesis imperfecta is a defect of collagen formation. (pinnacleorthocentre.com)
• Osteogenesis imperfecta also called pink tooth disease is a defect of bone mineralisation. (unibe.ch)
• The severity of OI depends on the specific gene defect. (medlineplus.gov)

Lethal2

• Severity ranges from mild forms to lethal forms in the perinatal period. (medscape.com)
• Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. (smw.ch)

Rickets1

• Radiology of Osteogenesis Imperfecta, Rickets and Other Bony Fragility States. (smw.ch)

Scoliosis3

• They have variable severity of scoliosis. (orpha.net)
• Select one and explore the pathophysiology and clinical manifestations of common musculoskeletal disorders and developmental abnormalities in children, such as scoliosis, developmental dysplasia of the hip (DDH), and osteogenesis imperfecta. (onlinepaperresearch.com)
• Common musculoskeletal disorders and developmental abnormalities in children, such as scoliosis, developmental dysplasia of the hip (DDH), and osteogenesis imperfecta, have distinct pathophysiologies and clinical manifestations. (onlinepaperresearch.com)

Genetics2

• What is new in genetics and osteogenesis imperfecta classification? (cdc.gov)
• If clinical consideration is being given to the possibility of osteogenesis imperfecta (OI), a genetics consultation may also be valuable. (medscape.com)

Collagen2

• In osteogenesis imperfecta, synthesis of collagen, one of the normal components of bone, is impaired in most affected people because of mutations in the genes that play an important role in the development of collagen. (msdmanuals.com)
• Osteogenesis imperfecta is caused by an abnormality in the gene that produces type 1 collagen, a protein used to create bone. (dubaimobility.com)

Autosomal dominant2

• Next generation sequencing (NGS) will analyze the exons or coding regions of three Autosomal Dominant Osteogenesis Imperfecta-associated genes using Illumina NextSeq 500/550 technology. (ohsu.edu)
• Dominant negative mutations (where mutation on one copy renders the other copy inactive) are involved in osteogenesis imperfecta type I and autosomal dominant nephrogenic diabetes insidipus . (dorak.info)

Bone fragility2

• Osteogenesis imperfecta (OI) is a heritable disease of bone in which the hallmark is bone fragility. (wiley.com)
• Osteogenesis Imperfecta (OI) is a group of disorders that affect bone fragility and formation. (ohsu.edu)

Bisphosphonate1

• Bisphosphonate therapy has emerged as a promising treatment option for individuals with osteogenesis imperfecta. (monettiapparel.com)

Systematic review1

• The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review. (cdc.gov)

Mutations2

• Osteogenesis imperfecta is either inherited from a parent who has the defective gene or could be a result of new mutations. (targetwoman.com)
• Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. (cdc.gov)

Mutation2

• The clinical severity, presence of other phenotypic features, and variation in age of onset and type of OI are determined by the gene in which a mutation occurs and the nature and location of the mutation in the gene. (uwcpdx.org)
• Testing for individuals with a positive family history for Osteogenesis Imperfecta (targeted testing is available if the familial mutation is known). (ohsu.edu)

Mildest1

• Type I osteogenesis imperfecta is the mildest type. (msdmanuals.com)

Deformities1

• Type IV osteogenesis imperfecta ranges widely in severity and can cause deformities. (msdmanuals.com)

Manifestations2

• Osteogenesis imperfecta includes a multitude of disease manifestations that may be present at birth or develop over time and vary depending on the severity of the disease. (nebraska.edu)
• Patients with PCD have ranging disease variability and severity, with some clinical manifestations presenting soon after birth. (rarediseasesnetwork.org)

Subtypes1

• These are typically clinically indistinguishable and are considered by most to be subtypes of osteogenesis imperfecta. (medscape.com)

Individuals2

• To aid in decision-making for treatment and management of individuals with Osteogenesis Imperfecta. (ohsu.edu)
• In this study, researchers aimed to describe pain characteristics and treatments used in individuals with varying severity of OI, as well as investigate variables associated with pain. (rarediseasesnetwork.org)

Radiographic1

• Radiographic features of osteogenesis imperfecta. (smw.ch)

Types5

• The width of biopsy cores, the width of the cortex, and the volume of cancellous bone are decreased in all types of osteogenesis imperfecta. (medscape.com)
• Five clinically distinct types of osteogenesis imperfecta (OI) have been identified. (orpha.net)
• Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV. (smw.ch)
• There are 4 main types of osteogenesis imperfecta (I, II, III, and IV) along with other rare types. (msdmanuals.com)
• There are more than a dozen identified types of osteogenesis imperfecta. (upmc.com)

Heterogeneous1

• The clinical severity is heterogeneous. (orpha.net)

Vary in severity2

• There are several known forms of OI, which vary in severity. (nih.gov)
• Burns vary in severity and treatments range from cleansing the area to skin grafting. (medscape.com)

Mobility2

• Quantum Rehab, the global leader in individualized powerchairs, emphasizes mobility technologies specific to the needs of those with osteogenesis imperfecta. (dubaimobility.com)
• Mobility in osteogenesis imperfecta: a multicenter North American study. (childrensmercy.org)

Radiologic1

• [ 6 ] Examples of common radiologic findings of osteogenesis imperfecta are shown in the images below. (medscape.com)