Pdf on apr 29, 2015, ferro c and others published osteogenesis imperfecta. Osteogenesis imperfecta is classified as type i, ii, iii, iv, v, or vi. The child was diagnosed with osteogenesis imperfecta at his 19th month with presentation of. It is a rare disease with an incidence of 1 in 15,000. Pathophysiology and therapeutic options in osteogenesis imperfecta.
Osteogenesis imperfecta oi constitutes, within the group of bone dysplasias, a set of congenital disorders of collagen type 1 fibers. It is due to mutations of chromosomes 7 and 17 derived from defects in the formation of collagen type. Read more about symptoms, diagnosis, treatment, complications. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Evaluation of oral problems in an osteogenesis imperfecta population. Osteogenesis imperfecta oi is the most common hereditary bone disorder with an incidence of one in 10,00025,000 births. Osteogenesis imperfecta, colageno tipo i, clasificacion clinica. Osteogenesis imperfecta oi is an inherited connective tissue disease. In 1970 there were 4 known types of oi, today 15 types of oi have been discovered. Summary osteogenesis imperfecta is the genetic bone disease with the higher incidence. The diagnosis is based on clinical and radiologic findings. Imperfect osteogenesis io is a genetic disorder with an autosomal dominant pattern.
It is caused mainly by mutations in the genes that code for type i collagen chains. Pathophysiology and therapeutic options in osteogenesis. Case report a 35yearold g2p1 caucasian woman had her firsttrimester ultrasound evaluation. 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. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. Fractures and bone deformities occur with trivial trauma. Osteogenesis imperfecta, huesos largos cortos, displasia esqueletica. Protocolo clinico e diretrizes terapeuticas osteogenese. The literal meaning of osteogenesis imperfecta is imperfect bone formation. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. Oi is characterized by an increase in bone fragility that.
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. 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. It is a rare disease with an incidence of 1 in 15,000 20,000 births. There are four subtypes, all hereditary, but type ii, a lethal subtype, is the most frequently prenatally diagnosed. 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. Osteogenesis imperfecta oi is a group of hereditary genetic conditions of the connective tissue characterized by brittle bones and fractures.
In an attempt to provide a more refined subclassification, we selected five major criteria of high clinical value and proposed a score for each. A scoring system for the assessment of clinical severity in. Osteogenesis imperfecta overview nih osteoporosis and. In most cases, it shows an autosomal dominant inheritance pattern. Osteogenesis imperfecta is a heterogeneous group of hereditary disorders characterised by the anomalous formation of type i collagen. These mutations generate a biochemical defect that translates into a complex clinical picture. Pregnant with osteogenesis imperfect type iv, one case. Phenotypic variability of osteogenesis imperfecta type v caused by an ifitm5 mutation. 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. Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta. Osteogenesis imperfecta is a hereditary pathology characterized by the osseous fragility, which causes increasing severe deformities in patients. 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.
We report a particular observation of 16 year old adolescent boy who presented with tardy form of osteogenesis imperfecta. Osteogenesis imperfecta cqa authorstream presentation. 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. Diagnostico y tratamiento del paciente con osteogenesis imperfecta. 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. Case studies of people with fragile bones and hearing loss began appearing in medical literature in the 1600s. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Dentinogenesis imperfecta di associated with osteogenesis imperfecta oi is a genetic disorder that affects the connective tissues and results in dentine dysplasia. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. 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.
Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Osteogenesis imperfecta brittle bone disease evidence shows that cases of osteogenesis imperfecta appeared as far back as bc. It is due to mutations of chromosomes 7 and 17 derived from defects in the formation of collagen type i. This genetic defect in osteogenesis imperfect makes it impossible for the body to manufacture strong and sturdy bones. Patients suffering from osteogenesis imperfecta can have hundreds of bone fractures in a given lifetime. Caso clinico find, read and cite all the research you need on researchgate.
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