Osteogenesis imperfecta oi is a genetic disorder that affects the bones. People with oi also have weak muscles and bone deformities. Preventive management of children with congenital anomalies and syndromes, wilson gn, cooley wc eds, cambridge university press, cambridge, uk 2000. A multidisciplinary approach offers the best chance for children with oi, says daniel w. The orthopaedic management of osteogenesis imperfecta. The congenita type, in which the major lesions include blue sclerae and dentinogenesis imperfecta as well as osteoporosis, many fractures, and bowing of the bones, was seen in twelve patients. The molecular reasons are mutations in col1a1 or col1a2. Understanding and treating osteogenesis imperfecta gillette.
Management of osteogenesis imperfecta at the chris hani. Carlos alberto vidalruiz, diego molinabotello, jose luis sillernava. In severe oi types, such as iii or iv, orthognathic surgery is discouraged, despite. The most widely used system to classify the different types of oi is developed by sillence et al. This disease causes bones to be very weak and break with little or no trauma. Osteogenesis imperfecta oi is a disease that causes your bones to break easily. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause.
Assessing and managing osteogenesis imperfecta nursing times. Because children with osteogenesis imperfecta often have numerous medical needs, a number of specialists may be involved in their care. Traditionally oi was classified into oi types i to iv and thought to be only due to a defect in the collagen gene, however through the discovery of the new types of oiv to vii, breakthroughs have been made in understanding the pathophysiology of autosomal recessive oi and new. Osteogenesis imperfecta is an inherited disorder of connective tissue caused by type i collagen defects, thus all tissues rich in type i collagen are affected. In milder forms the fracture rate is only slightly increased and stature is normal or slightly decreased.
Certain drugs used in osteoporosis are used in these patients such as intravenous. Osteogenesis imperfecta oi is an inherited disorder of the connective tissues caused by abnormalities in collagen formation. Update on the evaluation and treatment of osteogenesis imperfecta. One of the known causes in some cases is a defect in how the body produces collagen. We present the anesthetic management of a 25yearold gravid woman with oi, fetal demise, and. Feb 11, 2020 principles of medical management of osteogenesis imperfecta. Principles of medical management of osteogenesis imperfecta.
Osteogenesis imperfecta nursing care management and study guide. Patients typically have multiple fractures or limb deformity. Nonsurgical interventions may include one or more of the following. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Management of children with moderate to severe oi involves physiotherapy, rehabilita tion, orthopedic surgery, and consideration of bisphosphonate treatment. Osteogenesis imperfecta oi is a group of genetic disorders that mainly. Anesthetic management in a gravida with type iv osteogenesis. Multiple fractures are common, and in severe cases, can even occur before birth. Osteogenesis imperfecta oi is a group of orphan diseases characterized by varying degrees of skeletal fragility. Osteogenesis imperfecta oi is the term used to describe a group of rare inherited skeletal disorders characterized by a greatly increased risk of fragility fractures 1.
The present report describes a 10year old saudi female child with osteogenesis imperfecta and dental problems. The condition affects the bodys ability to produce collagen, a protein in the bodys connective tissue. The aim of this investigation was to study dental aberrations in a large sample of unrelated patients with different types and forms of osteogenesis imperfecta oi. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. This case report discusses the systemic and dental manifestations of oi and di in a. Oi is predominantly caused by dominant mutations affecting type 1 collagen synthesis, with a number of other genes implicated in oi over recent years. Although multiple genotypes and phenotypes are associated with osteogenesis imperfecta, approximately 90% of the mutations are in the col1a1 and col1a2 genes. Firstline treatment to improve bone mineral density bmd is usually with bisphosphonates but longterm usage has been associated with uncommon complications such as atypical femoral fractures aff. Osteogenesis imperfecta oi is a genetic disorder which mainly affects the bone. Collagen is the major protein of the connective tissue. The current clinical classification system delineates 6 types, one of which.
Management of atypical femoral fracture in a patient with. Medical treatment with bisphosphonates has allowed for safer, more effective surgical management of children with osteogenesis imperfecta. The medical management of osteogenesis imperfecta is currently based on giving drugs that are used to treat osteoporosis, working on the assumption that medications which increase bone density and reduce bone turnover might favorably influence clinical outcome and reduce fracture risk. The term osteogenesis imperfecta means imperfect bone formation. Until now, no definitive treatment for oi has been found. Oi may present many challenges to the anesthesiologist. Gillette childrens specialty healthcare uses an inter disciplinary approach to managing oi. Go oduah mbbs, fc orthsa, mmedorthwits honorary lecturer, division of orthopaedic surgery. Osteogenesis imperfecta oi is a genetic disease whose clinical phenotype and severity vary considerably. Symptoms may be mild or severe, depending on the type of oi you have. Minimal trauma is sufficient to cause fractures and bone deformities. Sa orthopaedic journal winter 2017 vol 16 no 2 page 19. Management of fractures in adults with osteogenesis imperfecta is associated with unique challenges and employs a wide range of techniques.
Pdf osteogenesis imperfecta oi is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth. Access to society journal content varies across our titles. Management of osteogenesis imperfecta oi request pdf. Apr 11, 2008 osteogenesis imperfecta oi is a rare heritable condition characterized by bone fragility and reduced bone mass. Pdf the spine in patients with osteogenesis imperfecta. Osteogenesis imperfecta oi is a generalised connective tissue disorder associated with low bone mass, bone fragility and increased susceptibility to fractures. Management of retinal detachment in osteogenesis imperfecta. A classification system dividing oi into several types is commonly used to help describe how severely a person is affected. Osteogenesis imperfecta brittle bone disease types niams. Anesthesia recommendations for patients suffering from. Osteogenesis imperfecta oi is a hereditary connective tissue disorder with fragility of the bones as the dominant. Fractures and bone deformities occur with trivial trauma. Children who have oi commonly have delays in gross motor development. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected.
Osteogenesis imperfecta oi is in most cases a congenital disease of collagen type i with a remarkable variation in phenotype, ranging from severe forms that result in pre or perinatal death to very mild forms. Wormian bones in osteogenesis imperfecta and other disorders. A reclassification of osteogenesis imperfecta into a congenita type and two tarda types was made on the basis of ninety observed cases. Early diagnosis and treatment of di is recommended, as it may prevent or intercept deterioration of the teeth. Type i osteogenesis imperfecta is the mildest form of oi. Osteogenesis imperfecta is a genetic disorder that is characterized by bones that break easily, often from little or no apparent cause. Sep 24, 2017 osteogenesis imperfecta now have additional genes that cause brittle bones and is slowly spreading across generations and countries osteogenesis imperfecta is a disorder of bone fragility chiefly caused by mutations is the col1a1 and col1a2 that encode type i procollagen.
Mutations in several genes can cause oi but the condition is most commonly caused by mutations of colia1 or col1a2 resulting in the production of collagen which is abnormal or present in reduced amounts. Pdf current and emerging treatments for the management of. It is caused by a mutation to the gene that controls the production of collagen, which gives strength to the structure of bone and connective tissue and is found in bone, muscle, ligaments, skin, eyes, ears and heart muscle. Osteogenesis imperfecta is characterized by bone fragility. Osteogenesis imperfecta genetics home reference nih. Current and emerging treatments for the management of. As soon as the teeth erupt the parents may notice the problem and look for a pediatric dentists advice and treatment.
Nov 07, 20 dentinogenesis imperfecta di associated with osteogenesis imperfecta oi is a genetic disorder that affects the connective tissues and results in dentine dysplasia. Osteogenesis imperfecta oi is a genetically inherited metabolic bone disorder that results in multiple fractures and deformities in children. How osteogenesis imperfecta affects patients and families how the condition is diagnosed and treated complications associated with the condition osteogenesis imperfecta commonly known as brittle bone disease is a rare inherited disease that can present as trauma fractures in babies and children assessing and managing osteogenesis imperfecta. Jun 26, 2014 osteogenesis imperfecta oi is a genetic bone fragility disorder characterized by low bone mass, skeletal deformity, and variable short stature. Clear aligners are a promising option for orthodontic treatment. Osteogenesis imperfecta oi is a genetic disorder in which bones fracture break easily. Management treatment genetic counselling references abstract osteogenesis imperfecta oi is a group of inherited diseases responsible for varying degrees of skeletal fragility. Management of osteogenesis imperfecta oi management of the disease includes focusing on preventing or minimizing deformities, and maximizing the individuals functional ability at home and in the community.
Ekman in sweden, and the term osteogenesis imperfecta was first used by willem vrolik in 1849. Management of osteogenesis imperfecta sciencedirect. People with this condition have bones that break fracture easily, often from mild trauma or with no apparent cause. Management of osteogenesis imperfecta at the chris hani baragwanath hospital. Osteogenesis imperfecta oi is a heritable disease characterized by bone fragility. Osteogenesis imperfecta oi is a group of closely related inherited diseases characterized by abnormal bone fragility.
Management of oi is either nonsurgical or surgical. Feb 16, 2018 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. The treatment of oi has undergone tremendous improvement in the last two decades worldwide. Osteogenesis imperfecta is a genetic disorder of type i collagen. Osteogenesis imperfecta oi is a rare inherited condition affecting 1.
Osteogenesis imperfecta oi, also known as brittle bone disease, is the most common genetic bone disorder and its prevalence is estimated. Dental management of osteogenesis imperfecta request pdf. The increased risk of fractures due to bone fragility persists in adulthood, notably after 40 years of age, albeit at a lower level than during growth. The management of osteogenesis imperfecta in adults. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. Management of osteogenesis imperfecta endocrinology frontiers. Request pdf dental management of osteogenesis imperfecta osteogenesis imperfecta is an inherited disorder of connective tissue caused by type i collagen defects, thus all tissues rich in type. Osteogenesis imperfecta overview nih osteoporosis and. Sometimes the fractures happen for no known reason. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Treatment for osteogenesis imperfecta oi stanford health care. The multidisciplinary approach to the treatment of children and young people living with oi seeks to provide wellcoordinated, comprehensive. Osteogenesis imperfecta oi is the term used to describe a group of rare inherited skeletal disorders characterized by a greatly increased risk.
If you have access to a journal via a society or association membership, please browse to your society journal, select an article to view, and follow the instructions in this box. Recent findingsmutations in the two genes coding for collagen type i, col1a1 and col1a2, a. Anesthesia recommendations for patients suffering from osteogenesis imperfecta disease name. Osteogenesis imperfecta oi is an inherited disorder of connective tissue resulting from mutations in genes coding for type i collagen. Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. It is also known as lobsteins disease, brittlebone disease, bluesclera syndrome, and fragile bone disease is a.