See more ideas about osteogenesis imperfecta, bone diseases and pediatric nursing. Osteogenesis imperfecta usually begins either in utero or in infancy. Skin in osteogenesis imperfecta johns hopkins university. 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. Your symptoms may be mild or severe, depending on the type of oi you have. The nosology and classification of genetic skeletal disorders provided similar categorization in the 2010. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that affects type i collagen. Pdf pathophysiology and therapeutic options in osteogenesis. Osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. In males, who have only one x chromosome, a mutation in the only copy of the gene in each cell is sufficient.
Oi is caused by one of several genes that arent working properly. 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. When these genes dont work, it affects how you make. Dec 29, 2011 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 hereditary disease mostly caused by mutations impairing collagen synthesis and modification. If youre seeing this message, it means were having trouble loading external resources on our website. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A hereditary condition resulting from a decrease or abnormalitly in the amount of normal type i collagen. Third international conference on osteogenesis imperfecta annals of the new york academy of sciences by cetta, giuseppe, ramirez, francesco and a great selection of related books, art and collectibles available now at. This means an affected person will have osteogenesis imperfecta even though only one.
Consequently, the bones are less dense and break easily. Feb 16, 2018 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. This genetic defect accounts for almost 80% of all osteogenesis imperfecta cases 3. However, this aspect of oi is among the most lifethreatening. It is characterized by an increased susceptibility to bone fractures and decreased bone density. Sometimes the fractures happen for no known reason. Osteogenesis imperfecta oi is a genetic disorder in which bones fracture break easily. Jan 24, 2017 osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that affects type i collagen. Mutations in the col1a1 and col1a2 genes cause approximately 90 percent of all cases. Pathophysiology and therapeutic options in osteogenesis.
Pdf on feb 10, 2012, roy morello and others published osteogenesis. Osteogenesis imperfecta can be caused by mutations in one of several genes. Osteogenesis imperfecta an overview sciencedirect topics. Osteogenesis imperfecta oi is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type i collagen. 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 result of mutations in the genes that code for type i collagen. Osteogenesis imperfecta society of australia support. Cardiovascular disease in osteogenesis imperfecta sciencedirect. Jessica mcmichael explains osteogenesis imperfecta, also known as brittle bone disease, and the latest treatments used to improve a. Multiple fractures are common, and in severe cases, can even occur before birth. Practice collagen mutations result in osteogenesis imperfecta with khan academy s free online exercises. 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. Used items may not include supplementary materials such as cds or access codes. Osteogenesis imperfecta type xix is inherited in an xlinked recessive pattern. Lax joints weak muscles diffuse osteoporosisblue sclera dentinogenesis imperfecta. Remarkable advances have occurred in both aspects of the disorder since the previous edition of this book. Collagen mutations result in osteogenesis imperfecta. 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 was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. Lobsteins syndrome, porak and durante disease, brittle bone disease, osteopsathyrosis definition. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. Type i is different from the other types in many different ways. Osteogenesis imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Osteogenesis imperfecta oi is a group of inherited diseases responsible for varying degrees of skeletal. 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. It is also known as brittle bone disease, lobstein syndrome, fragilitas ossium, vrolik disease. Other manifestations include blue sclerae, dentinogenesis imperfecta, short stature, as well as deafness.
Osteogenesis imperfecta overview nih osteoporosis and. Osteogenesis imperfecta is characterized by bones that break easily often from little or no apparent cause. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. Four types of osteogenesis imperfecta were originally described by sillence in 1979 and are now used broadly as the sillence criteria. 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 collagen is needed to produce sturdy and strong bone, dentin, sclera, and ligaments in the body. Osteogenesis imperfecta nursing care management and study guide. 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. These genes provide instructions for making proteins that are used to assemble type i collagen.
The oi classification initially included four phenotypes iiv involving. Osteogenesis imperfecta is a genetic disease of collagen, the key component of connective tissue that gives bones both strength and flexibility. Oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. Apr 26, 2009 osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Because type i collagens are widely present in cardiac valves, ventricles, and vasculature, clinicians should be wary of associated conditions. 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.
Osteogenesis imperfecta oi is a disease that causes your bones to break fracture easily. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength. Tambien puede causar musculos debiles, dientes quebradizos, una columna desviada y perdida del sentido del oido. Pdf evelise brizola,1 temis m felix,2 jay r shapiro3 1bone and osteogenesis imperfecta department, kennedy krieger institute, johns. Pathophysiology and therapeutic options in osteogenesis imperfecta. Individuals who suffer from type i oi have generally normal type 1 collagen. Radiograph of infant with osteogenesis imperfecta oi this radiograph shows multiple fractures of the ribs and long bones, visible as nodalities within the deformed bone regions. It is estimated that osteogenesis imperfecta affects between 20,000 and 50,000 individuals. 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. Type i osteogenesis imperfecta is the result of a dominant gene. Osteogenesis imperfecta oi is a skeletal disease characterised by unusually fragile bones that break easily, often under loads that normal bones daily bear.
Defect in collagen synthesis results from abnormality in processing of type 1 collagenosteoblasts normal but the collagen fibers fail to mature. This inherent weakness of the bones is due to a malfunction in the bodys production of the pro tein collagen. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Cause osteogenesis imperfecta is a genetic disease, and the inheritance pattern is usually autosomal dominant. The basic pathophysiology seen osteogenesis imperfecta is the absence of one of the two genes responsible for the production of collagen type 1.
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 foundation, gaithersburg, md. What is the pathophysiology of osteogenesis imperfecta. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. Separate chapters discuss each of the several clinical features of oi. Fractures and bone deformities occur with trivial trauma. 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.
Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. 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. The osteogenesis imperfecta foundation january 1, 2005 isbn10. Osteogenesis imperfecta biology bibliographies cite this.
Osteogenesis imperfecta oi is the most common of the inherited connective. Two proalpha1 chains and one proalpha2 chain make up type i collagen, which forms the main protein of extracellular. Anyone can be born with oi, but people who have family members that have it are more likely to get it. Osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. Bone nonneoplastic or metabolic disease osteogenesis imperfecta. Full text pathophysiology and therapeutic options in. N2 the normal structure of skin consists of the epidermis, dermis and subcutaneous fat. Osteogenesis imperfecta genetics home reference nih. The mission of the osteogenesis imperfecta foundation oi foundation is to improve the. Learn osteogenesis imperfecta with free interactive flashcards.
Osteogenesis imperfecta oi is a genetic connective tissue disease that. Choose from 227 different sets of osteogenesis imperfecta flashcards on quizlet. For example, a person may have just a few or as many as several hundred fractures in a lifetime. There is an increased incidence of cardiovascular disease in osteogenesis imperfecta oi, though its exact prevalence is not known. Diagnostic dysmorphology plenum medical book company, new york 1990. Osteogenesis imperfecta biology bibliographies cite. Learn vocabulary, terms, and more with flashcards, games, and other study tools.
Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta oi is characterized by susceptibility to bone fractures, with a. Osteogenesis imperfecta oi is a group of genetic disorders that mainly. Osteogenesis imperfecta continues to be the paradigm for understanding the molecular basis of heritable connective tissues and evaluating therapeutic strategies for disorders affecting the mineralized skeleton. Osteogenesis imperfecta brittle bone disease types niams.
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