The authors present a case of osteogenesis imperfecta, emphasizing the clinical and epidemiological characteristics, forms of classification and treatment of the disease. Osteogenesis imperfecta is a hereditary pathology characterized by the osseous fragility, which causes increasing severe deformities in patients. There are four subtypes, all hereditary, but type ii, a lethal subtype, is the most frequently prenatally diagnosed. It is an inherited disorder of connective tissue integrity. 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. Pdf on apr 29, 2015, ferro c and others published osteogenesis imperfecta. Children with this condition present extreme bone fragility, frequently culminating with the death in the peri. Osteogenesis imperfecta oi constitutes, within the group of bone dysplasias, a set of congenital disorders of collagen type 1 fibers.
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. Family physicians must maintain a high index of suspicion, as diagnosis, along. Osteogenesis imperfecta, huesos largos cortos, displasia esqueletica. 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. The placement of osseointegrated dental implants in a patient with type iv b osteogenesis imperfecta. Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. A case of osteogenesis imperfecta, treated in the hospital. The diagnosis is based on clinical and radiologic findings. Osteogenesis imperfecta type iv oi type iv is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. Osteogenesis imperfecta oi, a secondary cause of osteoporosis, principally manifests as bone fragility. Evaluation of oral problems in an osteogenesis imperfecta population. It is a rare disease with an incidence of 1 in 15,000.
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. Oi type iv is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. Caso clinico find, read and cite all the research you need on researchgate. Osteogenesis imperfecta is a heterogeneous group of hereditary disorders characterised by the anomalous formation of type i collagen. Osteogenesis imperfecta oi is a rare connective tissue and bone disease that results in a bone fragility of varying severity. These mutations generate a biochemical defect that translates into a complex clinical picture. This is an important case not only to the knowledge of pediatricians and orthopedists, but also for other professionals involved with the problem. We report a particular observation of 16 year old adolescent boy who presented with tardy form of osteogenesis imperfecta. The osteogenesis imperfecta has a genetic background that affects.
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