The disease occurs in 6 to 7 per 100,000 people world wide. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. Types i and iv are subdivided by whether or not opalescent dentin is present. Osteogenesis imperfecta foundation, gaithersburg, md. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. The mission of the osteogenesis imperfecta foundation oi foundation is to improve the. Tratamiento ortesico en pacientes con osteogenesis imperfecta. Osteogenesis imperfecta oi is a rare disorder of type 1 collagen with currently identified types attributable to inherited abnormalities in type 1 collagen amount, structure, or processing. Devido a curvatura dos membros inferiores e a sua fragilidade, a maioria dos afetados por este tipo nao pode andar. Osteogenesis imperfecta is an autosomalrecessive genetic disorder of dogs characterized by defects in the development of collagen type i, resulting in fragile bones and teeth the disease is caused by a col1a missense mutation in the serpinh1 gene, a gene known to be involved in collagen maturation, similar to the human condition. Pdf fisioterapia iberoamericana movimiento cientifico. Muchos ninos con oi tienen retrasos en las habilidades motoras porque sus musculos son debiles.
Diagnostico y tratamiento del paciente con osteogenesis. Tambien puede causar musculos debiles, dientes quebradizos, una columna desviada y perdida del sentido del oido. We present in this clinical note the case of a male patient who suffered from type iii osteogenesis imperfecta, where the clinical characteristics of this disease can be seen, with a longterm evolution and multiple and recurrent fractures as the most outstanding complications. Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. 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. The disease doesnt range in particular communities but can range from severe to mild symptoms. Traditional treatments are being perfected, and new treatments for. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Osteogenesis imperfecta is a bone disease characterized by bones that break easily.
Osteogenesis imperfecta is classified as type i, ii, iii, iv, v, or vi. Osteogenesis imperfecta, fracturas, dolor, terapia, ejercicio. Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Osteogenesis imperfecta oi is a genetic disorder characterized by fragile bones that break easily, leading to associated deformities. Manejo basico del bebe con osteogenesis imperfecta youtube. Osteogenesis imperfecta oi is a disease caused by a genetic defect in the qualitative and quantitative synthesis of type i collagen there is a wide variation in its clinical signs, characterized by bone fragility, resulting in a bone vulnerable to external and internal forces, determining the occurrence of frequent fractures with minimal or no trauma. Osteogenesis imperfecta oi is a group of hereditary genetic conditions of the connective tissue characterized by brittle bones and fractures. Lobsteins syndrome, porak and durante disease, brittle bone disease, osteopsathyrosis definition. Oi contains 8 different forms that vary from person to person. This segment of the emedtv library provides a detailed overview of the conditions, including its causes, symptoms, treatment options, and more. This condition results from an inability to produce either sufficient or normal quality type i collagen, an essential component of healthy bone. 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. The mission of the osteogenesis imperfecta foundation oi.
In order to make an osteogenesis imperfecta diagnosis, the doctor will ask a number of questions about a persons medical history for example, current symptoms and family history of any medical problems. Osteogenesis imperfecta type i genetic and rare diseases. Physiotherapy and patients with osteogenesis imperfecta scielo. Osteogenesis imperfecta, fisioterapia, tratamiento. People with mild forms of the condition typically have a blue or. National resource center in cooperation with the osteogenesis imperfecta foundation. Today, most of the babies born with oi have a good chance of leading independent, successful, and satisfying lives.
Children with this condition present extreme bone fragility, frequently culminating with the death in the peri. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. Protocolo clinico e diretrizes terapeuticas osteogenese. Inicialmente a oi e a osteopsatirose idiopatica foram consideradas como patologias distintas, ambas relacionadas com o raquitismo, e passaramse quase 100. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. O prognostico da osteogenesis imperfecta tipo iii e geralmente severo. Diagnostico y tratamiento del paciente con osteogenesis imperfecta. Osteogenesis imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Dec 02, 2015 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations.
Multiple fractures are common, and in severe cases, can even occur before birth. An incidence of 1 to 20,000 to 1 in 60,000 infants with imperfect osteogenesis type ii is reported in mexico. Osteogenesis imperfecta is a disease that causes bones to be weak and therefore break easily. Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones.
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