Affected by osteogenesis imperfecta. Medical search. Frequent questions

Type I is mild and nondeforming with normal height or short stature, blue sclera, and no dentinogenesis imperfecta (DI). (orpha.net)
Sclerae were white or faintly blue and dentinogenesis imperfecta was uniformly absent. (wiley.com)
Dentinogenesis imperfecta is an inherited disorder of the dentine affecting the primary and permanent dentitions. (intelligentdental.com)
Children with OI and dentinogenesis imperfecta need the same basic care as discussed in Part 1, but they also need to be monitored for cracking, chipping and abrasion of the teeth. (intelligentdental.com)
However, the other half has a defect in the teeth called dentinogenesis imperfecta (DI), sometimes referred to as opalescent teeth or brittle teeth. (intelligentdental.com)
Children may have discolored and poorly developed teeth (called dentinogenesis imperfecta) depending on the type of osteogenesis imperfecta. (msdmanuals.com)
Abnormally colored teeth are seen in amelogenesis and dentinogenesis imperfecta, other types of developmentally hypomineralized and hypoplastic enamel and white spot enamel decay. (intelligentdental.com)
Dentinogenesis imperfecta is another inherited condition and, in some cases, osteogenesis imperfecta is associated. (intelligentdental.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)
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)

Smith R, Francis MJ, Houghton GR. The Brittle Bone Syndrome: Osteogenesis Imperfecta . (medscape.com)
Another heart-wrenching, controversial novel by Jodi Picoult, Handle with Care introduces Willow, a smart and charming five-year-old who was born with a brittle bone disease called osteogenesis imperfecta. (simonandschuster.com)
29-year-old Dhanya suffers from Osteogenesis imperfecta (OI), also known as brittle bone disease. (thebetterindia.com)
It is a rare genetic disorder that mainly affects the bones making them brittle and prone to easy breakage. (thebetterindia.com)
Connor suffers from Osteogenesis Imperfecta (OI), often called brittle bone disease. (bu.edu)
Osteogenesis imperfecta (OI), or brittle bone disease, is a disorder characterized by bone fragility and increased fracture incidence. (jci.org)
It may also be the result of a genetic disorder such as Osteogenesis Imperfecta (Brittle Bone Disease). (nuh.com.sg)
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)
See Special concerns, below, for a controversial, self-limiting variant of osteogenesis imperfecta, known as temporary brittle-bone disease. (medscape.com)
The Brittle Bone Disorders Consortium (BBDC) brings together physicians, researchers, and educators to learn more about osteogenesis imperfecta (OI), a genetic disorder that mainly affects the development of the bones. (rarediseasesnetwork.org)
Osteogenesis imperfecta (OI), also known as brittle-bone disease, is a genetic (inherited) disorder characterized by bones that break easily without a specific cause. (stanfordhealthcare.org)

Two infants with perinatal lethal form of osteogenesis imperfecta. (medscape.com)
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)

Five clinically distinct types of osteogenesis imperfecta (OI) have been identified. (orpha.net)
There are 4 main types of osteogenesis imperfecta (I, II, III, and IV) along with other rare types. (msdmanuals.com)

Radiographic features of osteogenesis imperfecta. (smw.ch)
Because osteoporosis and multiple fractures are hallmark features of osteogenesis imperfecta, other disorders that cause multiple fractures or decreased bone mineralization may be considered in the differential diagnosis, such as child abuse, juvenile osteoporosis, steroid-induced osteoporosis, Menkes (kinky-hair) syndrome, hypophosphatasia, battered child syndrome (syndrome X) and temporary brittle-bone disease. (medscape.com)

Bisphosphonates are drugs that have been used off label for the treatment of osteogenesis imperfecta (OI). (medscape.com)
Esposito P, Plotkin H. Surgical treatment of osteogenesis imperfecta: current concepts. (medscape.com)

When Willow is born with severe osteogenesis imperfecta, her parents are devastated-she will suffer hundreds of broken bones as she grows, a lifetime of pain. (simonandschuster.com)
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)
Campbell, B.G., Wootton, J.A.M., Macleod, J.N., Minor, R.R. : Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha 2(I) and severe osteogenesis imperfecta Journal of Bone & Mineral Research 16:1147-1153, 2001. (genomia.cz)
some amino acid substitutions for glycine create more severe forms of osteogenesis imperfecta. (mit.edu)
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)
Frontal radiograph of the leg in a patient with type I osteogenesis imperfecta (OI) shows evidence of severe osteoporosis, overtubulation of both the tibia and fibula, and a healing fracture of the transverse diaphyseal of the tibia. (medscape.com)
Type II is the most severe form of osteogenesis imperfecta. (medscape.com)
Type III osteogenesis imperfecta is the next most severe form after type II and is probably the form that is best known to radiologists and orthopedic surgeons. (medscape.com)
Children with this type of osteogenesis imperfecta tend to have severe dwarfism caused by spinal compression fractures, limb deformities, and disruption of growth plates. (medscape.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)
Conclusion: Despite the severe systemic issues and limitations that may be present in patients affected by this disease, it is of utmost importance that care with the oral cavity are not overlooked, thus promoting the patient a better quality of life. (bvsalud.org)

Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos syndrome (EDS)-phenotype. (amrita.edu)

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)
Using the Aga2+/- mouse, which has a mutation in type I collagen, we show an affected growth plate primarily due to a shortened proliferative zone. (jci.org)
Using atomistic modeling, the researchers demonstrate exactly how the substitution of eight different amino acids in place of glycine changes the electrochemical behavior of the collagen molecules and affects the mechanical properties of the collagen tissue. (mit.edu)
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)
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)
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)
Osteogenesis imperfecta (OI) is a common heritable disorder of collagen synthesis that results in weak bones that are easily fractured and are often deformed. (medscape.com)

Trejo P, Rauch F. Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment. (medscape.com)
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. (smw.ch)
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)
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)

Osteogenesis imperfecta is a condition causing extremely fragile bones. (medlineplus.gov)
Intramedullary nailing with supplemental plate and screw fixation of long bones of patients with osteogenesis imperfecta: Operative technique and preliminary results. (nemours.org)
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)
Multiple fractures and progressive deformity affect the long bones, skull, and spine and are often present at birth. (medscape.com)

Aside from a brief playable stint in Mass Effect 2 , Normandy's pilot is a non-player character who suffers from osteogenesis imperfecta. (kotaku.com)
1 in every 15,000 children suffers from osteogenesis imperfecta worldwide. (cure.org)

A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations. (nemours.org)
The NIH researchers discovered that mutations in the CRTAP gene accounted for a recessive form of the disorder - requiring two copies of the affected gene to show a particular trait. (nih.gov)

The medical potential of bisphosphonates (BP) was first discovered by Dr. Herbert Fleisch in 1968, and they have been used clinically for diseases such as Paget disease, osteoporosis, osteogenesis imperfecta, and cancer-induced bone disease for decades ( 1 ). (aacrjournals.org)
Frontal radiograph of the forearm in a 17-year-old female adolescent with type I osteogenesis imperfecta (OI) shows osteoporosis, bowing deformities with overtubulation of the radius, a healed ulnar fracture, and callus formation over the distal humerus. (medscape.com)

Evaluation of Fracture and Osteotomy Union in the Setting of Osteogenesis Imperfecta: Reliability of the Modified Radiographic Union Score for Tibial Fractures (RUST). (nemours.org)
Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: Revision rate and effect on fracture rate. (nemours.org)
In still other cases, affected individuals may have only a slightly increased risk for bone fracture. (nih.gov)

Type IV osteogenesis imperfecta ranges widely in severity and can cause deformities. (msdmanuals.com)
Type IV osteogenesis imperfecta is distinguished from type I by the slightly increased, although still variable, severity of bone fragility. (medscape.com)
Introduction: Osteogenesis imperfecta is a rare genetic condition, which the main clinical manifestation is bone fragility with different degrees of severity. (bvsalud.org)
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients. (cdc.gov)

Radiology of Osteogenesis Imperfecta, Rickets and Other Bony Fragility States. (smw.ch)
Osteogenesis imperfecta (OI) and rickets are two disorders associated with differences in both bone morphology (shape) due to differing skeletal development and material properties compared to that of healthy children. (ojp.gov)

Addressing the Controversy: Do Bisphosphonates Directly Affect Primary Tumors? (aacrjournals.org)

Effect of alendronate on bone mineralization density in the osteogenesis imperfecta murine model and wild type controls. (mpg.de)
Effect on trabecular and cortical bone mineralization of vitamin D receptor overexpression in mature osteoblastic cells in transgenic mice. (mpg.de)

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. (smw.ch)
The affected gene contains the information for cartilage associated protein, or CRTAP. (nih.gov)

Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. (smw.ch)
Osteogenesis imperfecta is an inherited connective tissue disease characterized by extreme bone fragility that leads to numerous fractures. (genomia.cz)
We study osteogenesis imperfecta (OI), which is a rare, genetic connective tissue disorder most characterized by bone fragility. (rarediseasesnetwork.org)
In addition, OI is a pleiotropic connective tissue disease that affects more than bone, and the phenotype can be highly variable depending upon genotype. (rarediseasesnetwork.org)

Osteogenesis imperfecta ( OI dan kadang-kadang dikenali sebagai penyakit tulang rapuh, atau "Lobstein syndrome" [1] ) adalah gangguan tulang genetik. (wikipedia.org)
Some, like Aicardi syndrome, affect only a handful of people while others, such as neurofibromatosis type 1, affect thousands. (vai.org)
Robinow syndrome: A syndrome that affects development of the skeleton. (vai.org)

Context: Osteogenesis imperfecta (OI) is a bone fragility disorder associated with reduced muscle size, dynamic muscle function and mobility. (galileo-training.com)

Amelogenesis imperfecta is an inherited condition which has numerous types and affects all teeth, though some forms are much milder in the primary dentition. (intelligentdental.com)

Sclera biru pada osteogenesis imperfecta. (wikipedia.org)

Affected bands are abnormal enamel which may be pitted, hypoplastic, rough, opaque or completely absent and also take up extrinsic stain. (intelligentdental.com)

Osteogenesis imperfecta (OI) is a heritable disease of bone in which the hallmark is bone fragility. (wiley.com)

The dental phenotype evaluation at the tooth level revealed that different genetic variants and associated clinical phenotypes affect each tooth type differently, and genetic variants are better predictors of the dental phenotype than the type of OI. (nih.gov)
These effects on endochondral ossification indicate that OI is a biologically complex phenotype going beyond its known impacts on bone to negatively affect linear growth. (jci.org)

Taurodontism was only found in permanent teeth and affected mostly first molars, and its prevalence decreased with age. (nih.gov)
All of the teeth may not be affected by DI, and primary teeth usually are affected to a greater extent than the permanent teeth. (intelligentdental.com)
In addition, OI may affect the growth of the jaws and may or may not affect the teeth. (intelligentdental.com)
The color of teeth may be affected by many factors, alone or in combination. (intelligentdental.com)
Fluorosis is a pathological condition resulting from an excessive intake of fluorine that affects all teeth. (intelligentdental.com)
Regional odontodysplasia affects a group of adjacent primary and permanent teeth on one side of the midline of the face. (intelligentdental.com)
Affected teeth often fail to erupt. (intelligentdental.com)

Figures in film, television, video games and novels depicted as having osteogenesis imperfecta include: Samuel L. Jackson's character Elijah Price in M. Night Shyamalan's 2000 film Unbreakable and its 2019 follow-up Glass, who was born with type I osteogenesis imperfecta. (wikipedia.org)
In a case of Type II osteogenesis imperfecta (166210), Tromp and Prockop [Proc. (coriell.org)
de Wet WJ, Chu ML, Prockop DJ , The mRNAs for the pro-alpha 1(I) and pro-alpha 2(I) chains of type I procollagen are translated at the same rate in normal human fibroblasts and in fibroblasts from two variants of osteogenesis imperfecta with altered steady state ratios of the two mRNAs. (coriell.org)
Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5. (nemours.org)
Type I osteogenesis imperfecta is the mildest type. (msdmanuals.com)
In type I osteogenesis imperfecta, bone fragility is mild, and there are minimal bony deformities. (medscape.com)
Most cases of osteogenesis imperfecta that are recognized in this way are type II, and the patients have no family history of the disease. (medscape.com)

Michel Petrucciani was a French jazz pianist who was born with a condition called osteogenesis imperfecta which affected his physical growth. (thefamouspeople.com)

All forms of OI also feature short stature, implying an effect on endochondral ossification. (jci.org)

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)

The variability of the modes of inheritance, family history, clinical features, and radiologic findings forms the basis for the current accepted classification system of osteogenesis imperfecta, which Sillence et al first proposed in 1979. (medscape.com)

Osteogenesis imperfecta: A set of genetic disorders that impact bone development. (vai.org)
Osteogenesis Imperfecta (OI) means imperfect bone formation, a term used to describe genetic disorders of the bone, causing fractures. (stanfordhealthcare.org)

Dental anomalies in Osteogenesis imperfecta (OI), such as tooth discoloration, pulp obliteration (calcified dental pulp space), and taurodontism (enlarged dental pulp space) vary between and within patients. (nih.gov)
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)
Categorization of the usage of adjunctive structural allograft bone graft in extremity surgery for patients with osteogenesis imperfecta. (nemours.org)
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)

The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta. (galileo-training.com)
Objective: To assess the effect of whole body vibration (WBV) training on bone density and geometry, muscle size and function, mobility, and balance in children with OI. (galileo-training.com)
Modern approach to children with osteogenesis imperfecta. (medscape.com)
This means that, despite their name, rare diseases in total affect more than 30 million people in the U.S., a large proportion of whom are children. (vai.org)
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. (smw.ch)
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)
My research is focused on improving surgical techniques and orthopedic care for children and young adults with osteogenesis imperfecta. (nemours.org)
If there is not early intervention on children like Farida with osteogenesis imperfecta, chances are they will lose the ability to walk. (cure.org)
Sometimes heart or lung diseases develop in children with osteogenesis imperfecta. (msdmanuals.com)
Conditions commonly thought of as only affecting children, such as cerebral palsy, osteogenesis imperfecta, spina bifida, and juvenile inflammatory arthritis, are now being seen more than ever in adults thanks to the tremendous progress in care leading to longer life expectancy. (boneandjointburden.org)

Affected areas may also take up extrinsic stain and mild types are difficult to distinguish from fluorosis. (intelligentdental.com)

Denosumab did not affect the pharmacokinetics of midazolam, which is metabolized by cytochrome P450 3A4 (CYP3A4). (druglib.com)
The pharmacokinetics of denosumab were not affected by age across all populations studied whose ages ranged from 28 to 87 years. (druglib.com)
The pharmacokinetics of denosumab were not affected by race. (druglib.com)

Anatomy12

Diseases16

Chemicals and Drugs17

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Phenomena and Processes14

Disciplines and Occupations1

Information Science2

Named Groups1

Dentinogenesis12

Brittle11

Perinatal lethal form of osteogenesis imperfecta2

Types of osteogenesis imperfecta2

Features of osteogenesis imperfecta2

Treatment of osteogenesis imperfecta2

Severe15

Ehlers-Danlos S1

COLLAGEN7

Diagnosis5

Bones5

Suffers2

Mutations2

Osteoporosis2

Fracture3

Severity4

Rickets2

Bisphosphonates1

Bone mineralization2

Cartilage-associa2

Connective4

Syndrome3

Disorder1

Amelogenesis1

Sclera1

Enamel1

Heritable1

Phenotype2

Teeth7

Type7

Growth1

Short stature1

FORM1

19791

Disorders2

Patients5

Children10

Mild1

Denosumab3