Feb 16, 2018 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta oi is characterized by susceptibility to. Historical background osteogenesis means formation of bone imperfecta is spanish for not perfect found in ancient egyptian mummy from bc osteogenesis imperfecta first used in 1895 also called brittle bone disease glass bone disease ekman lobstein syndrome. 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 it is also known as brittle bone disease, lobstein syndrome, fragilitas ossium, vrolik disease.
Because type i collagens are widely present in cardiac valves, ventricles, and vasculature, clinicians should be wary of associated conditions. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. It also affects sclerae, joints, tendons, heart valves and skin. However, this aspect of oi is among the most lifethreatening. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. In addition to fractures broken bones, people with oi sometimes have muscle weakness, loose joints joint laxity, curvature of the spine scoliosis, brittle teeth. In oi, however, the pathophysiology of the disease causes a defective bone matrix, which does not. However, recent investigations have revealed that mutations in the genes encoding for cartilageassociated protein crtap or prolyl 3hydroxylase 1 p3h1 can cause a severe, recessive form of oi. Choose from 227 different sets of osteogenesis imperfecta flashcards on quizlet. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Wiener medizinische wochenschrift, volume 165, issue. A hereditary condition resulting from a decrease or abnormalitly in the amount of normal type i collagen. Collagen mutations result in osteogenesis imperfecta. 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 also known as brittle bone disease is a heterogeneous group of inherited bone dysplasias characterized by skeletal deformity and bone fragility. It principally affects those tissues containing the main fibrilla collagen type i eg, bone and teeth. In contrast with the skeletal manifestations of osteogenesis imperfecta oi, the cardiovascular features are typically more subtle and less frequently recognized. 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. This means an affected person will have osteogenesis imperfecta even though only one faulty gene has been genetically received. Osteogenesis imperfecta oi is a skeletal disorder primarily caused by mutations in the type i collagen genes. Oi had been thought to be an autosomal dominant bone dysplasia caused by defects in. Osteogenesis imperfecta oi is a heritable connective tissue disorder mainly caused by mutations in the genes col1a1 and col1a2 and is associated with hearing loss in approximately half of the cases. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. Osteogenesis imperfecta how is osteogenesis imperfecta.
For example, a person may have just a few or as many as several hundred fractures in a lifetime. 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. Lobsteins syndrome, porak and durante disease, brittle bone disease, osteopsathyrosis definition. 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. 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. To address osteogenesis imperfectas oi complex implications, the osteogenesis imperfecta clinic at kennedy krieger institute comprises an interdisciplinary team of medical professionals. Cardiovascular disease in osteogenesis imperfecta sciencedirect. Osteogenesis imperfecta type iii and hypogonadotropic hypogonadism result in severe bone loss. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A genetic disease marked by abnormal fragility and plasticity of bone, with recurring fractures resulting from minimal trauma. Type i osteogenesis imperfecta is the result of a dominant gene. 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, commonly referred to as brittle bone disease. Osteogenesis imperfecta oi is an inherited condition causing increased fragility of bone. 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. Aug 24, 2016 osteogenesis imperfecta oi is an inherited condition causing increased fragility of bone. Other names for oi are lobstein disease, brittlebone disease, bluesclera syndrome, and fragilebone disease. This is a pdf file of an unedited manuscript that has been accepted for publication. Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Tambien puede causar musculos debiles, dientes quebradizos, una columna desviada y perdida del sentido del oido. Amar chitra katha vol 508 chanakya pdf the main clinical symptom of oi is bone fragility, but dentin is mineralized connective tissue produced by odontoblasts, which ostelgenesis continually functional cells. This faulty gene can originate from either parent, and it can. Your symptoms may be mild or severe, depending on the type of oi you have. Osteogenesis imperfecta overview nih osteoporosis and. Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Four types of osteogenesis imperfecta were originally described by sillence in 1979 and are now used broadly as the sillence criteria.
Osteogenesis imperfecta an overview sciencedirect topics. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily. Imperfecta asociada a osteogenesis imperfecta documents. In males, who have only one x chromosome, a mutation in the only copy of the gene in each cell is sufficient. Pathophysiology and therapeutic options in osteogenesis.
Heike hoyerkuhn, christian netzer, oliver semler pages 278284. Osteogenesis imperfecta type iv, 2, i, ii, pictures, symptom. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. Geographically, this report is segmented into several key regions, with production, consumption, revenue million. The hearing impairment usually starts between the second and fourth decade of life as a conductive hearing loss, frequently evolving to mixed hearing loss thereafter. Practice collagen mutations result in osteogenesis imperfecta with khan academy s free online exercises. Osteogenesis imperfecta oi is a heterogeneous disorder of connective tissues with an incidence of 115. The new gene discoveries in the past years have contributed to better explanation of the pathophysiology of osteogenesis imperfecta, providing opportunities for. This comprehensive team ensures a thorough evaluation of patients individual needs. 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. In 1835, lobstein coined the term osteogenesis imperfecta and was one of the first to correctly understand the etiology of the condition.
Ppt osteogenesis imperfecta powerpoint presentation free. Osteogenesis imperfecta article about osteogenesis. Osteogenesis imperfecta foundation, gaithersburg, md. Osteogenesis imperfecta oi is a disease that causes your bones to break fracture easily.
To address osteogenesis imperfecta s oi complex implications, the osteogenesis imperfecta clinic at kennedy krieger institute comprises an interdisciplinary team of medical professionals. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. Osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. Osteogenesis imperfecta is a genetic disease, and the inheritance pattern is usually autosomal dominant. Osteogenesis imperfecta brittle bone disease types niams. Oi varies in severity from person to person, ranging from a mild type to a severe type that causes death before or shortly after birth. Osteogenesis imperfecta oi is a genetic disorder that causes a persons bones to break easily, often from little or no apparent trauma. Reduced bone mass and abnormalities of cortical thickness and trabecular architecture play a role but these abnormalities are compounded by defects in bone matrix, which profoundly affect bone quality. It is also called as lobstein syndrome or brittle bone disease. Osteogenesis imperfecta how is osteogenesis imperfecta abbreviated. This genetic defect accounts for almost 80% of all osteogenesis imperfecta cases 3. Osteogenesis imperfect oi is a bone disorder involving genetic predisposition. Ppt osteogenesis imperfecta powerpoint presentation. These genes provide instructions for making proteins that are used to assemble type i collagen.
Osteogenesis imperfecta genetics home reference nih. Pdf evelise brizola,1 temis m felix,2 jay r shapiro3 1bone and osteogenesis imperfecta department. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems. To access free multiple choice questions on this topic, click here.
The mission of the osteogenesis imperfecta foundation oi foundation is to improve the. A disease inherited as an autosomal dominant and characterized by hypoplasia of osteoid tissue and collagen, resulting in bone fractures explanation of osteogenesis imperfecta. There are at least four clinical subtypes, most of which have an autosomal dominant inheritance, but. Osteogenesis imperfecta type xix is inherited in an xlinked recessive pattern. Individuals with osteogenesis imperfect lacks type1 collagen, which leads to defects in the connective tissue or may also lead to inability to make connective tissues leading to brittle bones.
Osteogenesis imperfecta oi, commonly referred to as brittle bone disease, is a rare genetic disease with an incidence of 115 00020 000. Bone nonneoplastic or metabolic disease osteogenesis imperfecta. Anyone can be born with oi, but people who have family members that have it are more likely to get it. Mutations in the col1a1 and col1a2 genes cause approximately 90 percent of all cases. Osteogenesis imperfecta clinic kennedy krieger institute. Pdf on feb 10, 2012, roy morello and others published osteogenesis imperfecta find, read and cite all the. Osteogenesis imperfecta oi is a genetic disorder of connective tissues. There is an increased incidence of cardiovascular disease in osteogenesis imperfecta oi, though its exact prevalence is not known. Osteogenesis imperfecta is characterized by bones that break easily often from little or no apparent cause.
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. Genetic causes and mechanisms of osteogenesis imperfecta. 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. Feb 11, 2020 pathophysiology of bone fragility in osteogenesis imperfecta bone fragility is greatly increased in osteogenesis imperfecta. Pathophysiology and therapeutic options in osteogenesis imperfecta. Osteogenesis imperfecta oi is a genetic disorder characterized by. Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. Apr 26, 2009 osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Dec 02, 2015 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Find out information about osteogenesis imperfecta. 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. Learn osteogenesis imperfecta with free interactive flashcards.
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. Global osteogenesis imperfecta treatment market research report 2018 in this report, the global osteogenesis imperfecta treatment market is valued at usd xx million in 2017 and is expected to reach usd xx million by the end of 2025, growing at a cagr of xx% between 2017 and 2025. The oi classification initially included four phenotypes iiv involving. Four types of osteogenesis imperfecta were originally described by sillence in 1979, and are now used broadly as the sillence criteria. 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 nursing care management and study guide. Pathophysiology of bone fragility in 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 oi is an inherited connective tissue disorder with many phenotypic presentations. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength. If youre seeing this message, it means were having trouble loading external resources on our website. Genetics of osteogenesis imperfecta clinical presentation. Osteogenesis imperfecta oi, also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason.
Bone fragility is greatly increased in osteogenesis imperfecta. Osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. Multiple fractures are common, and in severe cases, can even occur before birth. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. The nosology and classification of genetic skeletal disorders provided similar categorization in the 2010. Osteogenesis imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Pdf pathophysiology and therapeutic options in osteogenesis. Osteogenesis imperfecta nursing care management and study. Osteogenesis imperfecta oi is a generalized disorder of connective tissue manifested by bone fragility, blue sclerae, and other variable soft tissue manifestations. There is also evidence that rates of bone turnover are abnormally. Osteogenesis imperfecta type i genetic and rare diseases. 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. People with mild forms of the condition typically have a blue or grey tint to the part of the. It is also known as brittle bone disease, lobstein syndrome, fragilitas ossium, vrolik disease.