Experience with bisphosphonates in osteogenesis imperfecta. Osteogenesis imperfecta can be caused by mutations in one of several genes. The introduction of bisphosphonates for the treatment of osteogenesis imperfecta 14 years ago changed this paradigm. Osteogenesis imperfecta oi is an inherited disorder of the tissue that holds the body together connective tissue. Neurosurgical implications of osteogenesis imperfecta in. Type iii is the most severe type of osteogenesis imperfecta seen in children who survive the neonatal period. The genetic defect that causes the disease affects the nonmineral part of the bone. Osteogenesis imperfecta oi, known as brittle bone disease, is a heterogeneous, phenotypic and molecular group of inherited connective tissue diseases characterized by increased bone fragility. He or she may have soft bones that break fracture easily, bones that are not formed normally, and other problems. Osteogenesis imperfecta oi is a hereditary disease characterized by.
The result is less bone mass, which causes the bones to be more at risk for fracture. These genes provide instructions for making proteins that are used to assemble type i collagen. Therapy with pamidronate in children with osteogenesis. Osteogenesis imperfecta great ormond street hospital. Fourteen centers which have members of pediatric endocrinology chapter, indonesian pediatric society, were involved in obtaining data for the registry. Osteogenesis imperfecta oi, also known as brittlebone disease, is a genetic inherited disorder characterized by bones that break easily without a specific cause. Oi is a rare genetic condition known to cause bone fragility. Mutations in the col1a1 and col1a2 genes cause approximately 90 percent of all cases. In this largesample study, we demonstrated that osteogenesis imperfecta oi significantly impaired the quality of life qol in children.
Genetic analyses have found two subgroups in this disorder. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Osteogenesis imperfecta osteeohjenuhsis impurfektuh happens because of a defect in the gene that makes the. Osteogenesis imperfecta gillette childrens specialty. The impact produced by osteogenesis imperfecta in childrens quality of life almost has not been reported. Osteogenesis imperfecta overview nih osteoporosis and. Bone fragility in osteogenesis imperfecta oi is secondary to a diffuse structural abnormality of bone that results in increased bone turnover, reduced bone mineral content and decreased bone mineral density. The current management of children who have osteogenesis imperfecta oi includes bisphosphonate therapy, rehabilitation, correction of long bone deformity and acute fracture management. Consensus statement on physical rehabilitation in children. In addition to fractures broken bones, people with oi sometimes have muscle weakness, loose joints joint laxity, curvature of the spine scoliosis, brittle teeth. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. Osteogenesis imperfecta developmental and behavioral. Request pdf osteogenesis imperfecta in children and adolescentsnew developments in diagnosis and treatment osteogenesis imperfecta oi is the most.
If one parent has osteogenesis imperfecta, a child has a 50 percent chance of having the condition. Because children with osteogenesis imperfecta often have numerous medical needs, a number of specialists may be involved in their care. Treatment of osteogenesis imperfecta by bisphosphonate therapy can improve bone mass in all types of the disorder, and while not being a cure for the disorder does improve the quality of life of the patient. Abstract osteogenesis imperfecta oi is the most prevalent heritable bone fragility disorder in children. A multidisciplinary approach offers the best chance for children with oi, says daniel w. The primary manifestations are fractures, bone deformity, and bone pain, resulting in reduced mobility and function to complete everyday tasks. Osteogenesis imperfecta in children childrens hospital. It is caused by dominant mutations affecting the synthesis andor structure of type i procollagen or. Osteogenesis imperfecta is a serious lifelong condition that needs to be managed through an interdisciplinary medical approach to maximize a childs quality of life and ability to function.
There are four types of osteogenesis imperfecta, which vary greatly in. F specific adviceguidelines should be given to all staff involved in the. Differential diagnosis of osteogenesis imperfecta in children. Osteogenesis imperfecta affects somewhere between 25,000 and 50,000 people in the u. A child born with oi may have signs and symptoms that range from mild to severe. Sep 10, 2018 on the occasion of the th international conference on osteogenesis imperfecta in august 2017 an expert panel was convened to develop an international consensus paper regarding physical rehabilitation in children and adolescents with osteogenesis imperfecta. Key points about osteogenesis imperfecta in children. Treatment of children with osteogenesis imperfecta rauch and glorieux 161 incidence of fractures, bone pain, or functional status was evident.
Osteogenesis imperfecta oi is a spectrum of genetic disorders characterized by bone fragility. Data on age, gender, age at diagnosis, availability of bisphosphonate treatment, and its effects were collected from indonesian oi children registry, which documented from april to june 2012. Pdf osteogenesis imperfecta oi is a phenotypically and. Craniospinal abnormalities and neurologic complications of. A conservative approach in the orthopedic management of fractures in patients with oi is usually taken and fixation is rarely performed in the acute fracture setting. Its primary feature is fractures usually caused by minimal impact. Osteogenesis imperfecta in children and adolescentsnew. Apr 04, 2017 osteogenesis imperfecta oi is a heterogeneous heritable connective tissue disorder characterized by low bone density. Osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. Osteogenesis imperfecta oi, a heritable disorder, occurs in 1 in 10,000 to 15,000 liveborn children and affects people of all ethnicities. Genetics unit, shriners hospital for children, montreal, canada.
Osteogenesis imperfecta osteeohjenuhsis impurfektuh happens because of a defect in the gene that makes the protein collagen. Osteogenesis imperfecta genetics home reference nih. Nevertheless, children with oi can grow up to lead full. Dentinogenesis imperfecta dgi is a heritable disorder of dentin. Furthermore, the qol for oi patients was correlated with the presence of pathogenic gene mutations. Oi is caused by one of several genes that arent working properly. Moderatesevere oi patients had worse qol scores than patients with mild oi. Children with osteogenesis imperfecta unfortunately become very wellknown to their local accident and emergency and orthopedic services due to recurrent fractures. For example, a person may have just a few or as many as several hundred fractures in a lifetime. It has been known for three decades that the majority of.
Osteogenesis imperfecta gillette childrens specialty healthcare. Testing for osteogenesis imperfecta in cases of suspected nonaccidental injury. Osteogenesis imperfecta oi is a heterogeneous heritable connective tissue disorder characterized by low bone density. In a crosssectional study 54 children with oi oi type. Treatment of fractures in these patients can involve use of lightweight splints for nondisplaced, stable fractures in nonweightbearing bones. Osteogenesis imperfecta is a heritable disorder of bone formation resulting. Effects of bisphosphonates in children with osteogenesis. Osteogenesis imperfecta graph is that oi has never been defined using gene mutation as a criterion. In males, who have only one x chromosome, a mutation in the only copy of the gene in each cell is sufficient. Playing sports and exercising can be daunting due to the risk of fracture. Osteogenesis imperfecta nord national organization for. Feb 11, 2020 children with osteogenesis imperfecta unfortunately become very wellknown to their local accident and emergency and orthopedic services due to recurrent fractures. However, it is a systemic disorder, as evidenced by the occurrence of ocular complications, dentinogenesis imperfecta, hearing loss, joint laxity, restrictive pulmonary disease, and short stature.
Osteogenesis imperfecta oi is an inherited genetic bone disorder that is present at birth. Osteogenesis imperfecta also known as brittle bone disease is a heterogeneous group of inherited bone dysplasias characterized by skeletal deformity and bone fragility. When these genes dont work, it affects how you make. Healthrelated quality of life in children with osteogenesis.
Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Pamidronate therapy in childhood is the most extensively. Aug 22, 2018 dentinogenesis imperfecta dgi is a heritable disorder of dentin. F please seek specific advice from the pupils paediatric physiotherapist for their inclusion in p.
Until recently, medical management of osteogenesis imperfecta, a genetic disorder of reduced bone mass and frequent fractures, was elusive, and treatment was focused on maximizing mobility and function. Osteogenesis imperfecta brittle bone disease for parents. To determine clinical characteristics in children with osteogenesis imperfecta oi regarding impairment range of joint motion and muscle strength and disability functional skills in relation to the different types of the disease, and to study the correlation between characteristics of impairment and disability. There are four types of osteogenesis imperfecta, which vary greatly in how severe they are. Osteogenesis imperfecta in childhood archives of physical medicine. Transplantability and therapeutic effects of bone marrowderived mesenchymal cells in children with osteogenesis imperfecta edwin m. Osteogenesis imperfecta also known as brittle bone disease or oi is a genetic condition that causes a defect in a protein found in bonescalled collagen.
A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. The aim of this study was to assess the correlation between osteogenesis imperfecta oi and dentinogenesis imperfecta di from both a clinical and histological point of view, particularly clarifying the structural and ultrastructural dentine changes. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength. For some children with milder forms of oi, the diagnosis may not be found until they are older. The experts were chosen based on their clinical experience with children with osteogenesis imperfecta and were. Fast facts on osteogenesis imperfecta definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Participation in sports and exercise is recommended for children and young people with osteogenesis imperfecta oi to promote general fitness, muscle strengthening and bones becoming stronger. The oi classification initially included four phenotypes iiv involving. A child is brought into the emergency room with a fractured leg. A child born with oi may have soft bones that break fracture easily, bones that are not formed normally, and other problems. Foundation staff can suggest appropriate professionals as needed.
People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Understanding and treating osteogenesis imperfecta stephen sundberg, m. Osteogenesis imperfecta brittle bone disease types niams. Diagnosing oi is usually based on the number of fractures found in a childs arms, legs and ribs. Dentinogenesis imperfecta in children with osteogenesis. The national osteogenesis imperfecta foundation maintains a list of orthopedists and geneticists who are reputed to have experience with all types of oi. Your symptoms may be mild or severe, depending on the type of oi you have.
On the occasion of the th international conference on osteogenesis imperfecta in august 2017 an expert panel was convened to develop an international consensus paper regarding physical rehabilitation in children and adolescents with osteogenesis imperfecta. Dec 19, 2018 in this largesample study, we demonstrated that osteogenesis imperfecta oi significantly impaired the quality of life qol in children. It also tells you about the highly specialised service for oi based at gosh. Family caregivers, such as parents, of children with oi play an important role in helping these children live well at home. Hearing loss in children with osteogenesis imperfecta. Children with oi may suffer from complex neurosurgical problems affecting the. People with oi might have bones that break easily, which is why the condition is commonly called brittle bone disease.
Osteogenesis imperfecta type xix is inherited in an xlinked recessive pattern. Transplantability and therapeutic effects of bone marrow. This information sheet from great ormond street hospital gosh describes osteogenesis imperfecta oi, what causes it and how it can be managed. Including children who have osteogenesis imperfecta in mainstream pe lessons basic principles to follow when including a pupil with oi in a mainstream pe lesson.
Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. The differential diagnosis between types i and ii is often challenging. The experts were chosen based on their clinical experience with children with osteogenesis imperfecta and were identified by sending out.
Aug 18, 2017 osteogenesis imperfecta also known as brittle bone disease is a heterogeneous group of inherited bone dysplasias characterized by skeletal deformity and bone fragility. Sometimes the fractures happen for no known reason. Thus, the present crosssectional study had two aims. Dentinogenesis imperfecta type ii in swedish children and. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. Osteogenesis imperfecta oi is a disease that causes your bones to break fracture easily.
Its linked to a number of health challenges and is known for causing low bone density and fragile bones. Nine patients diagnosed with oi were admitted to the first pediatric. Osteogenesis imperfecta and physical education and. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. Feb 16, 2018 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta oi is a genetic condition present from birth. Anyone can be born with oi, but people who have family members that have it are more likely to get it. Children have difficulty growing and have a short stature. The daytoday experiences of caring for children with. Osteogenesis imperfecta oi is a genetic disorder in which bones fracture break easily. International journal of paediatric dentistry 2010.
Therapy with pamidronate in children with osteogenesis imperfecta. Multiple fractures are common, and in severe cases, can even occur before birth. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily. Glorieux genetics unit, shriners hospital for children, montreal, canada. Osteogenesis imperfecta oi is a genetic disorder that prevents the body from building strong bones. Cyclic intravenous pamidronate therapy leads to an increase in. The aim of this study was to assess the correlation between osteogenesis imperfecta oi and dentinogenesis imperfecta di from both a clinical and histological point of view, particularly clarifying the. Chapter 27 differential diagnosis of osteogenesis imperfecta in children.
The primary manifestations are fractures, bone deformity, and bone pain, resulting in. Type iii is the most severe type of osteogenesis imperfecta seen in children who survive the. Osteogenesis imperfecta oi is a rare genetic disorder characterized by disruption of normal collagen formation resulting in varying degrees of skeletal vulnerability, ligamentous laxity, and scleral discoloration. Osteogenesis imperfecta shriners hospitals for children. The condition affects the bodys ability to produce collagen, a protein in the bodys connective tissue.
The condition presents complex challenges on anatomical, medical and sociopsychological levels. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems. They either dont have enough collagen in their bones or have collagen that doesnt work as it should. Scraped knees go handinhand with childhood, but children with oi are at significantly higher risk for breaking bones. This study aimed to explore the daytoday experiences of caregivers who are caring for children with osteogenesis imperfecta oi. The most common forms of osteogenesis imperfecta are inherited and can usually be traced through the family. Children with osteogenesis imperfecta have extremely fragile bones, which may break easily and frequently. Osteogenesis imperfecta oi is a hereditary disease characterized by multiple. Dgi type i, a syndromic form associated with osteogenesis imperfecta oi, and dgi type ii, a nonsyndromic form. A condition is considered xlinked if the mutated gene that causes the disorder is located on the x chromosome, one of the two sex chromosomes in each cell.
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