Osteogenesis imperfecta oi literally means imperfectly formed bone. This information helps explain why people with even relatively mild oi seem to have higher rates of asthma and pneumonia than people who do not have oi. Food and drug administration fda for the treatment of oi. Medical staff at the abc medical center, mexico city. Osteogenesis imperfecta can be caused by mutations in one of several genes. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A classification system of different types of oi is commonly. The condition affects the bodys ability to produce collagen, a protein in the. Osteogenesis imperfecta nih osteoporosis and related. 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.
Management of a patient with osteogenesis imperfecta and trisomy 18. Osteogenesis imperfecta type vi in childhood and adolescence. List the types and clinical features of osteogenesis imperfecta oi, including the potential overlap with abuse. Cause osteogenesis imperfecta is a genetic disease. Sep 07, 2010 treatment of mild form type i in a child presenting one or more unexplained fractures without a familial history of oi, it is sometimes difficult to differentiate a mild form of oi type i and especially type iv with white sclerae from nonaccidental injury, juvenile idiopathic osteoporosis or the debated temporary brittle bone disease. Experience with bisphosphonates in osteogenesis imperfecta. After completing this article, readers should be able to. Osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. Not all doctors agree on how they should be used to treat people with oi. Orthopedic surgery resident, albany medical center, albany, ny. Mar 01, 2010 osteogenesis imperfecta type ii is a lethal type of osteogenesis imperfecta oi.
The introduction of bisphosphonates for the treatment of osteogenesis imperfecta 14 years ago changed this paradigm. Osteogenesis imperfecta overview nih osteoporosis and. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. What are the treatments for osteogenesis imperfecta oi. Osteogenesis imperfecta an overview sciencedirect topics. Treatment currently, there is no known cure for osteogenesis imperfecta. Osteogenesis imperfecta also known as brittle bone disease, osteogenesis imperfecta oi is a genetic disorder that causes weak bones that break easily in addition to other symptoms. Bisphosphonate therapy is sometimes used to treat people with osteogenesis imperfecta oi. Osteogenesis imperfecta 01 is a skeletal disorder of remark able clinical variability characterized by bone fragility. This means an affected person will have osteogenesis imperfecta even though only one. Osteogenesis imperfecta oi, also known as brittlebone disease, is a genetic inherited disorder characterized by bones that break easily without a specific cause. Recent findingsmutations in the two genes coding for collagen type i, col1a1 and col1a2, a. People with osteogenesis imperfecta have a genetic defect that impairs the bodys ability to make strong bones. Four types of osteogenesis imperfecta were originally described by sillence in 1979 and are now used broadly as the sillence criteria.
Oi is an incurable genetic disease that causes strictly. Pathophysiology and therapeutic options in osteogenesis. Osteogenesis imperfecta oi is a generalized disorder of connective tissue manifested by bone fragility, blue sclerae, and other variable soft tissue manifestations. Clear aligners are a promising option for orthodontic treatment. Osteogenesis imperfecta type xix is inherited in an xlinked recessive pattern. Treatment for osteogenesis imperfecta oi stanford health care. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. Feb 16, 2018 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta oi is a heritable disease characterized by bone fragility. Osteogenesis imperfecta great ormond street hospital.
The condition presents complex challenges on anatomical, medical and sociopsychological levels. In males, who have only one x chromosome, a mutation in the only copy of the gene in each cell is sufficient. Incidence and treatment of femur fractures in adults with osteogenesis imperfecta. The interdisciplinary healthcare team helps the family to improve the functional outcomes and to provide support. Understanding and treating osteogenesis imperfecta gillette. Oral cavity problems related to osteogenesis imperfecta may include the following. Early intervention is important to ensure optimal quality of life and outcomes. Dentinogenesis imperfecta di type 2 is a disease inherited in a simple autosomal dominant mode. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems. Osteogenesis imperfecta type ii genetic and rare diseases. Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogen.
Casting, splinting, and bracing fractured bones can help them heal properly. Low oxygen causes severe problems the lungs transfer oxygen from the air you breathe into the blood. The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. 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.
Tambien puede causar musculos debiles, dientes quebradizos, una columna desviada y perdida del sentido del oido. Osteogenesis imperfecta oi is a group of inherited. It is estimated that osteogenesis imperfecta affects between 20,000 and 50,000 individuals. Pamidronate treatment of osteogenesis imperfectalack of correlation between clinical severity, age at onset of treatment, predicted collagen mutation and treatment response. There are several forms of oi, and although there is no cure, the symptoms of oi can be managed with a healthy lifestyle, medication, or surgery. Osteogenesis imperfecta oi is a progressive condition that needs lifelong management to prevent deformity and complications. Osteogenesis imperfecta also known as brittle bone disease is a heterogeneous group of inherited bone dysplasias characterized by skeletal deformity and bone fragility. Glorieux has refined this classification 2 by subclassifying type iv into types v, vi, and. Bisphosphonates are the most widely used agents for the treatment of osteogenesis imperfecta. There are at least four clinical subtypes, most of which have an autosomal dominant inheritance, but new mutations occur, especially in the lethal forms. Osteogenesis imperfecta type ii is a lethal type of osteogenesis imperfecta oi.
Incidence and treatment of femur fractures in adults with. Dental care for people with osteogenesis imperfecta. Osteogenesis imperfecta oi is a genetic disorder that affects the bones. Multiple fractures are common, and in severe cases, can even occur before birth. Cause osteogenesis imperfecta is a genetic disease, and the inheritance pattern is usually autosomal dominant. For example, a person may have just a few or as many as several hundred fractures in a lifetime. 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. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. As soon as the teeth erupt the parents may notice the problem and look for a pediatric dentists advice. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Pdf current and emerging treatments for the management of. In order to understand oi, it is important to know the different types. The teeth do not correctly match up making biting difficult. This disease causes bones to be very weak and break with little or no trauma.
Dentinogenesis imperfecta di associated with osteogenesis imperfecta oi is a genetic disorder that affects the connective tissues and results in dentine dysplasia. Databases were searched including medline, cinahl, and ebsco. 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. Oi treatments are designed to prevent or control symptoms and vary from person to person. Carlos alberto vidalruiz, diego molinabotello, jose luis siller nava. Current and emerging treatments for the management of.
This case report discusses the systemic and dental manifestations of oi and di in a 4yearold child, with moderate presentation of both disorders, who was treated at king fahd. Osteogenesis imperfecta oi is a genetic condition present from birth. These teeth may be misshapen, may chip or break easily, and will require special care. Cyclic intravenous pamidronate therapy leads to an increase in bone density. Osteogenesis imperfecta is an inherited connective tissue. Medications like bisphosphonates are prescribed to increase. Osteogenesis imperfecta oi is a group of genetic disorders that mainly. Jan 22, 2020 treatment currently, there is no known cure for osteogenesis imperfecta.
Pdf osteogenesis imperfecta oi is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth. Ensuring that children with osteogenesis imperfecta eat a nutritious diet, get regular exercise, and maintain a healthy weight is fundamentally important. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. Osteogenesis imperfecta treatment choc childrens, orange. There are four types of osteogenesis imperfecta, which vary greatly in how severe they are. Feb 11, 2020 bisphosphonates in osteogenesis imperfecta.
Treatment with zoledronic acid za over 2 years, among 33 children with osteogenesis imperfecta oi and five bruck syndrome cases, showed reduction in fracture rates, pain, and improvement in. Medical treatment with bisphosphonates has allowed for safer, more effective surgical management of children with osteogenesis imperfecta. Osteogenesis imperfecta is a rare condition caused by an. The primary focus of treatment is on preventing injuries and maintaining healthy bones. Osteogenesis imperfecta oi is a genetic disorder characterized by fragile bones that break easily, leading to associated deformities. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It also tells you about the highly specialised service for oi based at gosh. Some people have a more severe form of the disorder in which their bones break easily. Oi management centers on increas ing bone density and muscle mass, minimizing fractures, maintaining.
This information sheet from great ormond street hospital gosh describes osteogenesis imperfecta oi, what causes it and how it can be managed. Osteogenesis imperfecta nih osteoporosis and related bone. Lobsteins syndrome, porak and durante disease, brittle bone disease, osteopsathyrosis definition. The osteogenesis imperfecta society can also be an important resource. Pdf treatment options for osteogenesis imperfecta researchgate. Oi is an incurable genetic disease that causes strictly physical limitations such as decreased bone mass and increased fracture occurrence. People with oi also have weak muscles and bone deformities. 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. Consequently, the bones are less dense and break easily. Patients with type ii present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull. Treatment of mild form type i in a child presenting one or more unexplained fractures without a familial history of oi, it is sometimes difficult to differentiate a mild form of oi type i and. Imperfecta asociada a osteogenesis imperfecta documents. In severe oi types, such as iii or iv, orthognathic surgery is discouraged, despite.
Its primary feature is fractures usually caused by minimal impact. Treatment for oi and its related symptoms may include. 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. The association of trisomy 18 and osteogenesis imperfecta is rare. Mutations in the col1a1 and col1a2 genes cause approximately 90 percent of all cases. The condition affects the bodys ability to produce collagen, a protein in the bodys connective tissue. There are therapies that help us deal and manage the pain and complications that come with it.
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