Feb 06, 20 earliest known case of osteogenesis imperfecta in a partially mummified infants skeleton from ancient egypt now housed in the british museum in london. Download as ppt, pdf, txt or read online from scribd. Osteogenesis imperfecta is a hereditary pathology characterized by the osseous fragility, which causes increasing severe deformities in patients. Still little is known about the manifestations of osteogenesis imperfecta oi in adults. Osteogenesis imperfecta oi is characterized by susceptibility. Osteogenesis imperfecta ppt free download as powerpoint presentation. Osteogenesis imperfecta case presentation medicine. Cardiovascular disease in osteogenesis imperfecta sciencedirect. Osteogenesis imperfecta type iv, 2, i, ii, pictures, symptom. Also called brittle bone disease one of the most common congenital connective tissue matrix diseases disease of type i collagen due to mutations in genes coding for alpha 1 2 collagen chains, usually autosomal dominant. Osteogenesis imperfecta is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen.
Ochoa rosas ana gabriela silva daz brianda cecilia. Osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. Osteogenesis imperfecta type v genetic and rare diseases. Osteogenesis imperfecta health sciences wellness scribd. It primarily affects the bones, causing them to be fragile. Type iiv are autosomal dominant, and type vixiii are. Four types of osteogenesis imperfecta were originally described by sillence in 1979 and are now used broadly as the sillence criteria. Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts.
In most patients the disorder is caused by mutations in one of the two genes encoding collagen. The condition affects the bodys ability to produce collagen, a protein in the bodys connective tissue. Osteogenesis imperfecta also known as brittle bone disease is a phenotypically and genotypically heterogeneous group of inherited bone dysplasias. Lobstein disease, brittle bone disease, bluesclera syndrome, and fragilebone disease 3. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Osteogenesis imperfecta is characterized by bones that break easily often from little or no apparent cause. In order to understand oi, it is important to know the different types. Osteogenesis imperfecta oi is a genetic condition present from birth. Osteogenesis imperfecta is a common heritable connective tissue disorder.
Osteogenesis imperfecta oi, commonly called brittle bone disease, is a disease that causes a defect in the production of collagen protein. Osteogenesis imperfecta oi is the collective term for a heterogeneous group of connective tissue syndromes characterized primarily by liability to fractures throughout life. Osteogenesis imperfecta pathophysiology, genetics, causes. Pathophysiology and therapeutic options in osteogenesis imperfecta. Earliest known case of osteogenesis imperfecta in a partially mummified infants skeleton from ancient egypt now housed in the british museum in london. Oi can occur by both inheritance and spontaneous genetic mutation andhas been linked to over 150 genetic mutations that all take effect on the genes col1a1 and col1a2. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. Osteogenesis imperfecta type i genetic and rare diseases. The basic pathophysiology seen osteogenesis imperfecta is the absence of one of the two genes responsible for the production of collagen type 1.
Osteogenesis imperfecta power point scoliosis bone scribd. The earliest known case of osteogenesis imperfecta oi is in a partially mummified infants skeleton from ancient egypt now housed in the british museum in london. This collagen is needed to produce sturdy and strong bone, dentin, sclera, and ligaments in the body. We therefore initiated this study of bone mass, bone turnover and prevalence of fractures in a large. Baljet, 2002 the nomenclature and classification of oi has evolved substantially. Osteogenesis imperfecta case presentation free download as powerpoint presentation. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type i collagen, but in the past 10 years discoveries of novel mainly. People with oi are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of typei collagen.
Osteogenesis imperfecta overview nih osteoporosis and. Genetics of osteogenesis imperfecta clinical presentation. Osteogenesis imperfecta oi is a group of genetic disorders that. It is also known as brittle bone disease, lobstein syndrome, fragilitas ossium, vrolik disease. In 1835, lobstein coined the term osteogenesis imperfecta other names for oi. Osteogenesis imperfecta is the most common form of inherited bone fragility disorder, with an estimated prevalence of between 1 in 25,000 and 30,000 cases in. Osteogenesis imperfecta oi is a genetic disorder in which bones fracture break easily. More than 600 members of the oi community will come together for three days of specialized sessions on managing oi, free medical consultations and social events. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. Dec 02, 2015 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Your symptoms may be mild or severe, depending on the type of oi you have.
We report a particular observation of 16 year old adolescent boy who presented with tardy form of osteogenesis imperfecta. Scribd is the worlds largest social reading and publishing site. Fractures and bone deformities occur with trivial trauma. However, more recent studies have also found some cases of autosomal recessive in nature. Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. Osteogenesis imperfecta is a disorder of connective tissue characterized by thinwalled, extremely fractureprone bones deficient in osteoblasts boneforming cells, as well as by malformed teeth, blue sclerae, and progressive deafness. Apr 26, 2009 osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. Osteogeneis imperfecta glass bone disease 1 brittle bone disease lobsteins disease 2 porak and durantes disease 3 definitiondiagnosis criteria osteogenesis imperfecta oi is a group of orphan diseases characterized by varying degrees of skeletal fragility. Osteogenesis imperfecta type v is a moderate type of osteogenesis imperfecta oi. Osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. Osteogenesis imperfecta power point free download as powerpoint. Sometimes the fractures happen for no known reason. Nearly ninety percent are due to type i collagen mutations.
Osteogenesis imperfecta due to the work of many dedicated scientists and physicians, a great deal has been learned about osteogenesis imperfecta in the last 10 years. Osteogenesis imperfecta nursing care management and study guide. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Links to pubmed are also available for selected references. Osteogenesis imperfecta genetics home reference nih. Collagen is an important protein that helps to support the body.
Osteogenesis imperfecta oi is a group of inherited diseases responsible for varying degrees. Oi is caused by one of several genes that arent working properly. Osteogenesis imperfecta oi is a generalized disorder of connective tissue manifested by bone fragility, blue sclerae, and other variable soft tissue manifestations. Osteogenesis imperfecta merck manuals professional edition. I have chosen this particular case study as in my practice as an. Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Feb 24, 2020 osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. Depending on the type, the inheritance of the disorder can be autosomal dominant.
Osteogenesis imperfecta oi means bones formed imperfectly. 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. Dec 29, 2011 osteogenesis imperfecta oi is a hereditary connective tissue disorder, clinically characterized by a variable degree of bone fragility with recurrent fractures, scoliosis, bone deformities, and short stature as well as nonskeletal abnormalities including blue sclerae, abnormal dentition, and joint hyperlaxity. It causes bone fragility leading to fractures that may be frequent, and a. It is a genetic condition that someone is born with and will always carry throughout their life. Osteogenesis imperfecta brittle bone disease types niams. Osteogenesis imperfecta power point free download as powerpoint presentation. People with oi also have weak muscles and bone deformities. Osteogenesis imperfecta oi is a rare genetic disorder of the synthesis of collagen that affects bone and connective tissue that can also be referred to as brittle bone disease. Osteogenesis imperfect results from autosomal dominant inheritance of gene defects of connective tissue formation.
Oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. Osteogenesis imperfecta great ormond street hospital. Choose from 227 different sets of osteogenesis imperfecta flashcards on quizlet. A hereditary condition resulting from a decrease or abnormalitly in the amount of normal type i collagen. Most prominent signs are fractures due to low traumata and.
Pathophysiology and therapeutic options in osteogenesis. Last published 122018 please note that online information may be more recently updated than printed materials. It describes the genetic cause, prevalence, diagnosis, clinical features, prognosis, and treatment of this disorder. Osteogenesis imperfecta oi is a rare, heritable systemic disorder of bone and connective tissue, which in almost 90% of cases is due to mutations affecting the normal synthesis of type i collagen. Full text is available as a scanned copy of the original print version. There is an increased incidence of cardiovascular disease in osteogenesis imperfecta oi, though its exact prevalence is not known. This fact sheet contains information on osteogenesis imperfecta.
Its primary feature is fractures usually caused by minimal impact. Osteogenesis imperfecta oi is a genetic disorder that affects the bones. Today, most of the babies born with oi have a good chance of leading independent, successful, and satisfying lives. Mitral valve prolapse hearing loss thermal instability blood vessel fragility. 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. Mutations in the col1a1 and col1a2 genes, which encode the. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Osteogenesis imperfecta oi is a disease that causes your bones to break fracture easily. Anyone can be born with oi, but people who have family members that have it are more likely to get it. Osteogenesis imperfecta an overview sciencedirect topics. Osteogenesis imperfecta case presentation free download as powerpoint. Brittle bone disease rare genetic disorder in which bone are fragile and fracture easily resulting in bone deformity an autosomal dominant disease a person with oi has a 50% chance of passing on.
People with this condition have bones that break fracture easily, often from. Niams publication ordering system national institute of. In 1835, lobstein coined the term osteogenesis imperfecta and was one of the first to correctly understand the etiology of the condition. The most frequently used classification outlines four clinical types, which we have expanded to seven distinct types. Get a printable copy pdf file of the complete article 481k, or click on a page image below to browse page by page. Because type i collagens are widely present in cardiac valves, ventricles, and vasculature, clinicians should be wary of associated conditions. 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. This information sheet from great ormond street hospital gosh describes osteogenesis imperfecta. Nov 11, 2019 osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Four types of osteogenesis imperfecta were originally described by sillence in 1979, and are now used broadly as the sillence criteria. Multiple fractures are common, and in severe cases, can even occur before birth.
A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass, and other connectivetissue manifestations. For example, a person may have just a few or as many as several hundred fractures in a lifetime. Osteogenesis imperfecta radiology reference article. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth. This disease causes bones to be very weak and break with little or no trauma. Osteogenesis imperfecta ppt health sciences wellness scribd. Since the first scientific description of oi in 1788 peltier, 1981. Brittle bone disease rare genetic disorder in which bone are fragile and fracture easily resulting in bone deformity an autosomal dominant disease a person with oi has a 50% chance of passing on the gene and the disease to their children.
Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. When these genes dont work, it affects how you make. In 1979, four oi phenotypes were categorized which were inherited as autosomal dominant characteristics. Sep 24, 2017 osteogenesis imperfecta is a disorder of bone fragility chiefly caused by mutations is the col1a1 and col1a2 that encode type i procollagen.
Treatment includes growth hormone for some types and bisphosphonates. Osteogenesis imperfecta type 1 is the mildest form of oi and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. The term osteogenesis imperfecta means imperfect bone formation. Two proalpha1 chains and one proalpha2 chain make up type i collagen, which forms the main protein of. Osteogenesis imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. This genetic defect accounts for almost 80% of all osteogenesis imperfecta cases 3. Full text full text is available as a scanned copy of the original print version. Type i osteogenesis imperfecta is the result of a dominant gene.
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