Osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. Individuals who suffer from type i oi have generally normal type 1 collagen. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Osteogenesis imperfecta foundation, gaithersburg, md. Neonatologia neonatal handbook 2006 blood pressure. In most patients the disorder is caused by mutations in one of the two genes encoding collagen.
When these genes dont work, it affects how you make. 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. Mutations in the col1a1 and col1a2 genes, which encode the. Osteogenesis imperfecta overview nih osteoporosis and. Osteogenesis imperfecta oi is a group of inherited diseases responsible for varying degrees of skeletal. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Full text of manual of neonatal care cloharty see other formats. Hutchison paediatrics free ebook download as pdf file. 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.
Four types of osteogenesis imperfecta were originally described by sillence in 1979, and are now used broadly as the sillence criteria. Since most mutations identified in oi are dominant negative, the gene therapy. This genetic defect accounts for almost 80% of all osteogenesis imperfecta cases 3. Oi is caused by one of several genes that arent working properly. Lobsteins syndrome, porak and durante disease, brittle bone disease, osteopsathyrosis definition. 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. Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass, and other connectivetissue manifestations. Osteogenesis imperfecta oi is a genetic disorder in which bones fracture break easily. Osteogenesis imperfecta oi is the most common of the inherited connective. 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. Oi is caused by defects in or related to a protein called type 1 collagen pronounced koluhjuhn. It is generally characterized by multiple bone fractures, blue sclerae and possible hearing loss, although considerable. Osteogenesis imperfecta oi is a genetic disorder that affects the bones. Treatment includes growth hormone for some types and bisphosphonates.
Stress induced cardiomyopathy with concomitant acute coronary syndromeacs is uncommon. 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. Multiple fractures are common, and in severe cases, can even occur before birth. To understand how osteogenesis imperfecta affects the way skeletal tissue forms, its important to understand how a normal human body grows new bone. Two proalpha1 chains and one proalpha2 chain make up type i collagen, which forms the main protein. Brochure jij en jouw leven met oi 1218 jaar, download. People with mild forms of the condition typically have a blue or grey tint to the part of the. Type i osteogenesis imperfecta is the result of a dominant gene. In contrast with the skeletal manifestations of osteogenesis imperfecta oi, the cardiovascular features are typically more subtle and less frequently recognized. Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. Type i is different from the other types in many different ways. 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 type i genetic and rare diseases. Osteogenesis imperfecta is a result of mutations in the genes that code for type i collagen. The most frequently used classification outlines four clinical types, which we have expanded to seven distinct types. Osteogenesis imperfecta is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen. 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. Four types of osteogenesis imperfecta were originally described by sillence in 1979 and are now used broadly as the sillence criteria. Osteogenesis imperfecta usually begins either in utero or in infancy. The oi classification initially included four phenotypes iiv involving. Osteogenesis imperfecta is a heterogeneous group of.
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. Collagen is an essential building block of the body. The task largely falls to cells called osteoblasts, which create new bone tissue, while cells called osteoclasts break down old bone. Osteogenesis imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Choose from 227 different sets of osteogenesis imperfecta flashcards on quizlet. Thureen is an established and wellrecognized expert in neonatal nutrition and metabolism. People with oi also have weak muscles and bone deformities. Neonatal nutrition and metabolism pdf free download.
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 group of genetic disorders that mainly. Collagen is a fibrous protein material that serves as the structural foundation of skin, bone, cartilage, and ligaments. This disease causes bones to be very weak and break with little or no trauma. Osteogenesis imperfecta oi is a group of genetic diseases in which the bones are formed improperly, making them fragile and prone to breaking description. 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 genetic disorder that causes bones to break easily without cause. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. Genetics of osteogenesis imperfecta clinical presentation. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Osteogenesis imperfecta an overview sciencedirect topics. She has brought to the book a large fund of knowledge, unique insights into design and content of individual chapters and topics, and a personal commitment that involved long hours of hard work.
Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta radiology reference article. Depending on the type, the inheritance of the disorder can be autosomal dominant. 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. The nosology and classification of genetic skeletal disorders provided similar categorization in the 2010. Recently recessive forms have been described influencing.
Mutations in type i collagen genes resulting in osteogenesis. The body uses type 1 collagen to make bones strong and to build tendons, ligaments, teeth, and the whites of the eyes. Neonatology 2012 utila medicine medical specialties. 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. Learn osteogenesis imperfecta with free interactive flashcards. 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 oi is an inherited connective tissue disorder with many phenotypic presentations. Sometimes the fractures happen for no known reason. A hereditary condition resulting from a decrease or abnormalitly in the amount of normal type i collagen. Neonatology 2012 utila free ebook download as pdf file. 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.
Genetic causes and mechanisms of osteogenesis imperfecta. Pathophysiology and therapeutic options in osteogenesis. Osteogenesis imperfecta oi, otherwise known as brittle bone disease, is an inherited disorder that causes varying degrees of bone fragility, and is associated with defects in several tissues rich in type i collagen. Osteogenesis imperfecta oi is a genetic disorder characterized by. Pdf osteogenesis imperfecta oi is characterized by susceptibility to bone. Pathophysiology and therapeutic options in osteogenesis imperfecta.
The basic pathophysiology seen osteogenesis imperfecta is the absence of one of the two genes responsible for the production of collagen type 1. Oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. However, this aspect of oi is among the most lifethreatening. Diffuse osteopenia associated with multiple fractures and deformities.
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 is the most common of the inherited connective tissue disorders that primarily affect bone. Osteogenesis imperfecta is a rare, generalized multisystemic heritable disease caused by a structural defect in type 1 collagen, which constitutes the majority of the nonmineral bone matrix. Neonatologia neonatal handbook 2006 free ebook download as pdf file. There are four types of osteogenesis imperfecta, which vary greatly in how severe they are. However, it is a systemic disorder, as evidenced by the occurrence of ocular. This collagen is needed to produce sturdy and strong bone, dentin, sclera, and ligaments in the body. The mission of the osteogenesis imperfecta foundation oi foundation is to improve the.
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