Osteogenesis imperfecta cqa authorstream presentation. Osteogenesis imperfecta brittle bone disease evidence shows that cases of osteogenesis imperfecta appeared as far back as bc. Case report a 35yearold g2p1 caucasian woman had her firsttrimester ultrasound evaluation. Evaluation of oral problems in an osteogenesis imperfecta population. Osteogenesis imperfecta osteogenesis imperfecta laura arias millan. The placement of osseointegrated dental implants in a patient with type iv b osteogenesis imperfecta. There are four subtypes, all hereditary, but type ii, a lethal subtype, is the most frequently prenatally diagnosed. Osteogenesis imperfecta is classified as type i, ii, iii, iv, v, or vi.
Osteogenesis imperfecta is a heterogeneous group of hereditary disorders characterised by the anomalous formation of type i collagen. The disease has been linked to mutations in one of the type i collagen genes. Pregnant with osteogenesis imperfect type iv, one case. We use cookies to offer you a better experience, personalize content, tailor advertising, provide social media features, and better understand the use of our services. This case report discusses the systemic and dental manifestations of oi and di in a 4yearold child, with moderate presentation of both disorders, who was treated at king fahd. Osteogenesis imperfecta oi comprises a heterogeneous group of diseases characterized by susceptibility to bone fractures with variable severity and, in most cases, with presumed or proven defects in collagen type i biosynthesis van dijk et al. In most cases, it shows an autosomal dominant inheritance pattern.
Osteogenesis imperfecta, huesos largos cortos, displasia esqueletica. It is due to mutations of chromosomes 7 and 17 derived from defects in the formation of collagen type i. Read more about symptoms, diagnosis, treatment, complications. Pdf on apr 29, 2015, ferro c and others published osteogenesis imperfecta. Caso clinico find, read and cite all the research you need on researchgate. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. 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, and a poor bone mineralization. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. In 1970 there were 4 known types of oi, today 15 types of oi have been discovered. 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 oi constitutes, within the group of bone dysplasias, a set of congenital disorders of collagen type 1 fibers. Oi is characterized by an increase in bone fragility that.
It is a rare disease with an incidence of 1 in 15,000 20,000 births. Patients suffering from osteogenesis imperfecta can have hundreds of bone fractures in a given lifetime. A scoring system for the assessment of clinical severity in. Imperfect osteogenesis io is a genetic disorder with an autosomal dominant pattern. Case studies of people with fragile bones and hearing loss began appearing in medical literature in the 1600s.
Osteogenesis imperfecta, colageno tipo i, clasificacion clinica. 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. An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. In an attempt to provide a more refined subclassification, we selected five major criteria of high clinical value and proposed a score for each. Osteogenesis imperfecta is a hereditary pathology characterized by the osseous fragility, which causes increasing severe deformities in patients. Summary osteogenesis imperfecta is the genetic bone disease with the higher incidence. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. It is caused mainly by mutations in the genes that code for type i collagen chains. Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta. Diagnostico y tratamiento del paciente con osteogenesis imperfecta. Osteogeneis imperfecta glass bone disease 1 brittle bone disease lobsteins disease 2 porak and durantes disease 3 definitiondiagnosis criteria osteogenesis imperfecta oi is a group of orphan diseases characterized by varying degrees of skeletal fragility. Fractures and bone deformities occur with trivial trauma. Pathophysiology and therapeutic options in osteogenesis imperfecta.
Osteogenesis imperfecta overview nih osteoporosis and. Osteogenesis imperfecta classification radiology reference. The child was diagnosed with osteogenesis imperfecta at his 19th month with presentation of. Protocolo clinico e diretrizes terapeuticas osteogenese. These mutations generate a biochemical defect that translates into a complex clinical picture. The literal meaning of osteogenesis imperfecta is imperfect bone formation. It is a rare disease with an incidence of 1 in 15,000. Osteogenesis imperfecta oi is an inherited connective tissue disease. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. This genetic defect in osteogenesis imperfect makes it impossible for the body to manufacture strong and sturdy bones.
May 26, 2017 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. Tratamiento prostodontico en paciente con dentinogenesis. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. We report a particular observation of 16 year old adolescent boy who presented with tardy form of osteogenesis imperfecta. Osteogenesis imperfecta oi is a group of hereditary genetic conditions of the connective tissue characterized by brittle bones and fractures. Shapiro jr, lietman c, grover m, lu jt, nagamani sc, dawson bc, baldridge dm, bainbridge mn, cohn dh, blazo m, roberts tt, brennen fs, wu y, gibbs ra, melvin p, campeau pm, lee bh. Dentinogenesis imperfecta di associated with osteogenesis imperfecta oi is a genetic disorder that affects the connective tissues and results in dentine dysplasia. It is due to mutations of chromosomes 7 and 17 derived from defects in the formation of collagen type. Dentinogenesis impenecta asociada a osteogenesis imperfecta. Phenotypic variability of osteogenesis imperfecta type v caused by an ifitm5 mutation. Pathophysiology and therapeutic options in osteogenesis. Osteogenesis imperfecta oi is the most common hereditary bone disorder with an incidence of one in 10,00025,000 births. The several forms of osteogenesis imperfecta oi have been classified, representing wide variation in appearance and severity, and clinical features vary widely not only between types but within types.
277 806 4 1030 307 348 1503 336 547 1059 702 695 858 814 917 502 176 693 585 181 256 1033 1418 1470 1112 570 1294 1298 302 852 120 780 517 673 418 179 577 1096 1331 571 193 473 1006 417