Osteogenesis imperfecta biology bibliographies cite. Osteogenesis imperfecta biology bibliographies cite this. 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. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. Feb 16, 2018 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones.
Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. The earliest known case of osteogenesis imperfecta is in a partially mummified infants skeleton from ancient egypt now housed in the british museum in london other names. Pathophysiology of disease an introduction to clinical. Osteogenesis imperfecta type i genetic and rare diseases.
This course provides an overview of the management of children with osteogenesis imperfecta, including current evidence for best practices in this patient population. When these genes dont work, it affects how you make. Osteogenesis imperfecta the medical biochemistry page. Osteogenesis imperfecta can be caused by mutations in one of several genes. 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. Type i osteogenesis imperfecta is the result of a dominant gene. Evidencebased physical therapy management of the child. 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. As discussed above, col1a1 null alleles cause dominant oi through a mechanism of. Osteogenesis imperfecta oi is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type i collagen. Four types of osteogenesis imperfecta were originally described by sillence in 1979 and are now used broadly as the sillence criteria. The fundamental abnormality in oi is an inability to produce a bone matrix capable of providing the mechanical, remodeling, and regenerative properties of the axial, appendicular, and cranial skeleton. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations.
Jan 22, 2020 osteogenesis imperfecta oi, commonly called brittle bone disease, is a disease that causes a defect in the production of collagen protein. Evidencebased physical therapy management of the child with. Handbook of genetic counselingosteogenesis imperfecta oi. Pathophysiology and therapeutic options in osteogenesis. The most common causes and cases of oi are inherited as autosomal dominant diseases, those being types iv. 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 the united states martin and shapiro. Oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. 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. Two proalpha1 chains and one proalpha2 chain make up type i collagen, which forms the main protein of extracellular. Osteogenesis imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Other manifestations include blue sclerae, dentinogenesis imperfecta, short stature, as well as deafness. For example, a fracture resulting from decreased bone density in osteoporosis heals in much the same way as one caused by a defective.
They provide emotional support, foster and support canadian medical research in the causes of oi for all types involved. Pdf pathophysiology and therapeutic options in osteogenesis. Osteogenesis imperfecta oi is a group of genetic disorders that. Osteogenesis imperfecta oi is a group of genetic diseases in which the bones are formed improperly, making them fragile and prone to breaking description. Osteogenesis imperfecta 1 definition osteogenesis imperfecta 2 oi is a group of genetic diseases in which the bones are formed improperly, making them fragile and prone to breaking. 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. 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. 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. The hearing impairment usually starts between the second and fourth decade of life as a conductive hearing loss, frequently evolving to mixed hearing loss. Osteogenesis imperfecta oi is a genetic disorder in which bones fracture break easily. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that affects type i collagen.
Osteogenesis imperfecta gets its more common name, brittle bone disease because these children are often diagnosed after sustaining multiple broken bones. Symptoms typical problems seen in patients who have osteogenesis imperfecta include bone fragility, short stature, scoliosis, tooth defects, hearing deficits, bluish sclera, and loose ligaments. Mechanisms of cellular and tissue dysfunction in genetic diseases are as varied as the organs they aff ect. Most caused by type i collagen mutations most common type of collagen in bone. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Oi is caused by one of several genes that arent working properly. But receiving innovative, quality care from orthopaedic specialists at johns hopkins childrens center helps natalie live the life of a normal 10 year old. Genetic bone disorder characterized by fragile bones which break easily. The osteogenesis imperfecta foundation january 1, 2005 isbn10. 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. Osteogenesis imperfecta oi is a group of inherited diseases responsible for varying degrees of skeletal. Tambien puede causar musculos debiles, dientes quebradizos, una columna desviada y perdida del sentido del oido.
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. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. However, recent investigations have revealed that mutations in the genes encoding for. Full text pathophysiology and therapeutic options in. Osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. Radiology of syndromes, metabolic disorders, and skeletal dysplasias 1990. Other manifestations include blue sclerae, dentinogenesis imperfecta, short stature, as. Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. This collagen is needed to produce sturdy and strong bone, dentin, sclera, and ligaments in the body. Osteogenesis imperfecta overview nih osteoporosis and. Pathophysiology and therapeutic options in 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. Osteogenesis imperfecta power point bone health sciences. When you break it down really osteo means bone, genesis suggests genetics and not a love a phil collins that courses through my bones, and then imperfect. For example, a fracture resulting from decreased bone density in osteoporosis heals in much the same way as one caused by a defective collagen gene in osteogenesis. 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.
It is characterized by an increased susceptibility to bone fractures and decreased bone density. Remarkable advances have occurred in both aspects of the disorder since the previous edition of this book. Diagnostic dysmorphology plenum medical book company, new york 1990. Osteogenesis imperfecta oi is a genetic connective tissue disease that. Consequently, the bones are less dense and break easily. Osteogenesis imperfecta article about osteogenesis. Born with osteogenesis imperfecta, also known as brittle bone disorder, natalies bones are weaker than normal and more prone to fractures. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength to 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. Find out information about osteogenesis imperfecta. But receiving innovative, quality care from orthopaedic specialists at johns hopkins childrens center helps. These genes provide instructions for making proteins that are used to assemble type i collagen.
Apr 26, 2009 osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. Evidencebased physical therapy management of the child with osteogenesis imperfecta course. Sometimes the fractures happen for no known reason. 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 nursing care management and study guide. Separate chapters discuss each of the several clinical features of oi. This inherent weakness of the bones is due to a malfunction in the bodys production of the pro tein collagen. The canadian osteogenesis imperfecta society was established in 1983, it is an international nonprofit organization that helps with assisted living with those affected by oi.
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. A hereditary condition resulting from a decrease or abnormalitly in the amount of normal type i collagen. It is estimated that osteogenesis imperfecta affects between 20,000 and 50,000 individuals. Pdf evelise brizola,1 temis m felix,2 jay r shapiro3 1bone and osteogenesis imperfecta department, kennedy krieger institute, johns. Jessica mcmichael explains osteogenesis imperfecta, also known as brittle bone disease, and the latest treatments used to improve a childs quality of life. Cause osteogenesis imperfecta is a genetic disease, and the inheritance pattern is usually autosomal dominant. A guidebook for families 1994 osteogenesis imperfecta foundation. Collagen is an important protein that helps to support the body. This means an affected person will have osteogenesis imperfecta even though only one. The nosology and classification of genetic skeletal disorders. It is also known as brittle bone disease, lobstein syndrome, fragilitas ossium, vrolik disease.
Lobsteins syndrome, porak and durante disease, brittle bone disease, osteopsathyrosis definition. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Osteogenesis imperfecta type xix is inherited in an xlinked recessive pattern. Aug 06, 20 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 skeletal disorder primarily caused by mutations in the type i collagen genes.
For example, a person may have just a few or as many as several hundred fractures in a lifetime. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. 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. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. In males, who have only one x chromosome, a mutation in the only copy of the gene in each cell is sufficient. People with mild forms of the condition typically have a blue or.
Osteogenesis imperfecta is characterized by bones that break easily often from little or no apparent cause. Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased. To some extent, these mechanisms are similar to those that occur in nonheritable disorders.
Osteogenesis imperfecta oi is characterized by susceptibility to bone fractures, with a. Mutations in the col1a1 and col1a2 genes cause approximately 90 percent of all cases. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that. Osteogenesis imperfecta genetics home reference nih. 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. Osteogenesis imperfecta oi is a skeletal disease characterised by unusually fragile bones that break easily, often under loads that normal bones daily bear. We will discuss pathology, clinical presentation, and current medical and surgical inter. Osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen.
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