People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. He was diagnosed by the geneticists with oi and given genetic counseling to parents. Evaluation of oral problems in an osteogenesis imperfecta population. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Osteogenesis imperfecta is a hereditary pathology characterized by the osseous fragility, which causes increasing severe deformities in patients. Osteogenesis imperfecta oi, a secondary cause of osteoporosis, principally manifests as bone fragility.
Osteogenesis imperfecta oi type ii is within the group of connective tissue disorders hereditary geneticorigin characterized by bone fragility, multiple fractures, broad long bones and shortened. Children with this condition present extreme bone fragility, frequently culminating with the death in the peri. It is a rare disease with an incidence of 1 in 15,000. It is an inherited disorder of connective tissue integrity.
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 oi is a group of genetic disorders that mainly affect the bones. A case of osteogenesis imperfecta, treated in the hospital. Osteogenesis imperfecta is a heterogeneous group of hereditary disorders characterised by the anomalous formation of type i collagen. Family physicians must maintain a high index of suspicion, as diagnosis, along. There are four subtypes, all hereditary, but type ii, a lethal subtype, is the most frequently prenatally diagnosed. Osteogenesis imperfecta oi is a rare connective tissue and bone disease that results in a bone fragility of varying severity. The osteogenesis imperfecta has a genetic background that affects. This is an important case not only to the knowledge of pediatricians and orthopedists, but also for other professionals involved with the problem. Osteogenesis imperfecta type iv oi type iv is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones.
The authors present a case of osteogenesis imperfecta, emphasizing the clinical and epidemiological characteristics, forms of classification and treatment of the disease. These mutations generate a biochemical defect that translates into a complex clinical picture. Pdf on apr 29, 2015, ferro c and others published osteogenesis imperfecta. Osteogenesis imperfecta oi is an inherited connective tissue disease. The disease has been linked to mutations in one of the type i collagen genes. Caso clinico find, read and cite all the research you need on researchgate. The diagnosis is based on clinical and radiologic findings. The placement of osseointegrated dental implants in a patient with type iv b osteogenesis imperfecta. Osteogenesis imperfecta, huesos largos cortos, displasia esqueletica. We report a particular observation of 16 year old adolescent boy who presented with tardy form of osteogenesis imperfecta. Osteogenesis imperfecta oi constitutes, within the group of bone dysplasias, a set of congenital disorders of collagen type 1 fibers. Pregnant with osteogenesis imperfect type iv, one case. Multiple fractures are common, and in severe cases, can even occur before birth.
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