A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. Por osteogenese imperfeita oi enten dese disturbio. A osteogenese imperfeita oi e uma doenca rara do tecido conjuntivo cuja principal causa e uma. Osteogenesis imperfecta oi is characterized by susceptibility to bone fractures. Osteogenesis imperfecta is a common heritable connective tissue disorder. Osteogenesis imperfecta oi is the most common of the genetic connective tissue disorders that. Research article anthropometric measurements in egyptian patients with osteogenesis imperfecta mona s. Pdf osteogenesis imperfecta oi is characterized by susceptibility to. Nov 21, 2011 osteogenesis imperfecta oi is a heterogeneous group of heritable disorders affecting bone and connective tissue.
Night shyamalans 2000 film unbreakable and its 2019 followup glass, who was born with type i osteogenesis imperfecta. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. Recognize the major clinical signs of osteogenesis imperfecta. Besides bone fragility, features like laxity of the ligaments, blue sclera, growth retardation, and scoliosis are also observed. Primary osteoporosis affecting collagen osteogenesis imperfecta.
Full text animal models of osteogenesis imperfecta. It is most notably characterized by bone fragility, decreased bone mass, and recurrent fractures that can lead to skeletal deformities. In osteogenesis imperfecta oi, the normal structure and function of skin are disrupted. Osteogenesis imperfecta type iv with dental findings in siblings. The population frequencies of type i oi has been reported to range between 2. Osteogenesis imperfecta is a rare disease of connective tissue in which the most common cause is.
Genetic factors play a very important role in the pathogenesis of oi either as a dominant or recessive factor. Ppt osteogenesis imperfecta case study christian micallef. Pathophysiology and therapeutic options in osteogenesis. Osteogenesis imperfecta pediatric orthopaedic society of. Temtamy1 1department of clinical genetics, national research centre nrc, cairo, egypt 2department of biological anthropology, national research centre nrc, cairo, egypt. Osteogenesis imperfecta thomas lowbridge pgcert advanced practitioner plain film reporting november 2010. Recurrence of perinatal lethal osteogenesis imperfecta in. Osteogenesis imperfecta oi is the most common inherited form of bone fragility and includes a heterogenous group of genetic disorders which most commonly result from defects associated with type 1 collagen. Osteogenesis imperfecta oi is a heritable bone dysplasia characterized by bone.
Approximately 85% of oi cases are caused by dominant autosomal m. The hearing impairment usually starts between the second and fourth decade of life as a conductive hearing loss, frequently evolving to mixed hearing loss thereafter. Since the first scientific description of oi in 1788 peltier, 1981. Inadditionto the syndromes with brittle bones andor osteoporosis, encompassed by the descriptive groupings previously numbered of osteogenesis imperfecta syndromes, there is the large group of syndromes with decreased bone density, which have signi. Current approach to diagnosis and treatment of children with. It is characterised by bone fragility due to low bone mass giving an increased fracture incidence kocher and shaprio, 1998. Osteogenesis imperfecta management of fractures and nursing care christian micallef 11th april 2012 case presentation joey, a six year old boy with osteogenesis imperfecta type viii presented to the emergency department, accompanied by his mother, after hitting his left thigh off a table while driving his electric wheelchair. Skin in osteogenesis imperfecta johns hopkins university. Alendronate for the treatment of pediatric osteogenesis imperfecta. Aug 14, 2020 osteogenesis imperfecta oi is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as well as additional, variable extraskeletal symptoms. Oi type x is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue. Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988.
Osteogenesis imperfecta oi is a generalized disorder of connective tissue manifested by bone fragility, blue sclerae, and other variable soft tissue manifestations. The clinical features of the recessive types of oi are described in section 4 molecular. Independent walk in osteogenesis imperfecta scielo. Osteogenesis imperfectapathophysiology and therapeutic. Bone mass, bone markers and prevalence of fractures in adults with. Treatment of osteogenesis imperfecta by bisphosphonate therapy can improve bone mass in all types of the disorder, and while not being a cure for the disorder does improve the quality of life of the patient. Brittle bone disease osteogenesis imperfecta teaching. Oi is caused by a mutation change in a gene that affects bone formation, bone strength and the structure of other tissues. Osteogenesis imperfecta type iv with dental findings in. Discuss the major types of osteogenesis imperfecta. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. The most widely used clinical classification is the sillence classification, which originally included four groups sillence, 1979. Chu ml, williams cj, pepe g, hirsch jl, prockop dj, ramirez f. Jun 25, 2020 osteogenesis imperfecta is a rare disease occurring in 1 in 15,000 to 20,000 births.
This retrospective study on longterm outcomes in osteogenesis imperfecta type vi found that patients who received intravenous bisphosphonate treatment had an increase in lumbar spine areal bone mineral density, a higher final height zscore, and some reshaping of vertebral bodies. Osteogenesis imperfecta an overview sciencedirect topics. Osteogenesis imperfecta oi figure 1 is an inherited disease consisting of at least five subtypes. The disease is characterized by varying degrees of bone fragility, retarded growth, bone deformities, tooth abnormalities, blue sclera the whites of the eyes, hearing loss, and flat feet. Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. It is associated with fractures following relatively minor injury, blue sclerae, dentinogenesis imperfecta, increased joint mobility, short stature, and hearing loss. Osteogenesis imperfecta oi is a rare, complicated and variable disorder. Longterm followup in osteogenesis imperfecta type vi.
Zaki,2 laila hosny,1 rasha elhoussini,1 ghada oteify,1 and samia a. Osteogenesis imperfecta is the genetic bone disease with the higher incidence. Full text pathophysiology and therapeutic options in osteogenesis. The clinical severity of oi can vary greatly, even within families who share a common mutation. Feb 27, 2015 osteogenesis imperfecta oi is the collective term for a heterogeneous group of connective tissue syndromes characterized primarily by liability to fractures throughout life. Osteogenesis imperfecta oi is a hereditary disorder characterized by increased tendency for bone fractures due to high fragility. Anthropometric measurements in egyptian patients with. The aims are to support families and parents of young people with oi, provide. Mar 26, 2021 osteogenesis imperfecta oi types i, ii, iii, iv, v and vi, are inherited in an autosomal dominant manner. Characteristics and treatment considerations joseph p.
Osteogenesis imperfecta oi is a heritable disorder of bone formation that may affect more than 1. Osteogenesis imperfecta oi is characterized by susceptibility to bone fractures, with a severity ranging from subtle increase in fracture frequency to prenatal fractures. Oi is predominantly caused by dominant mutations affecting type 1 collagen synthesis, with a number of other genes implicated in oi over recent years. Pathophysiology and therapeutic options in osteogenesis imperfecta. Structures in the otic capsule and inner ear share in the histologic features common to other skeletal tissues. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth. Genetic epidemiology, prevalence, and genotypephenotype. Fast facts on osteogenesis imperfecta definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Osteogenesis imperfecta foundation 656 quince orchard rd.
The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta oi is a hereditary connective tissue disorder, clinically characterized by a variable degree of bone fragility with recurrent fractures, scoliosis, bone deformities, and short stature as well as nonskeletal abnormalities including blue sclerae, abnormal dentition, and joint hyperlaxity. There are no comprehensive genotypephenotype studies on 100 families outside north america, and no populationbased studies determining the genetic epidemiology of oi. Osteogenesis imperfecta oi, commonly known as brittle bone disease, is a genetic disease characterized by extreme bone fragility and consequent. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Emqn best practice guidelines for the laboratory diagnosis. Asa butterfields character gardner elliot in peter chelsoms 2017 film the space between us was born with osteogenesis imperfecta due to being born on the planet mars. Osteogenesis imperfecta oi encompasses a group of disorders characterized by a varying degree of bone fragility and frequent fractures often leading to limb bowing or other deformities. Oi, also known as brittle bone disease, is an inherited disorder of connective. Osteogenesis imperfecta oi comprises a group of inherited disorders characterized by bone fragility and increased susceptibility to fractures.
This second edition of the osteogenesis imperfecta handbook on care for children and young people with oi is provided freeas an internet book. Osteogenesis imperfecta oi is a rare hereditary bone fragility disorder, caused by collagen i mutations in 90% of cases. There are at least four clinical subtypes, most of which have an autosomal dominant inheritance, but new mutations occur, especially in the lethal forms. Osteogenesis imperfecta oi type vi is an ultrarare bone fragility disorder caused by recessive mutations in. Oct 12, 2016 osteogenesis imperfecta oi comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. Osteogenesis imperfecta oi is a heritable bone dysplasia characterized. Osteogenesis imperfecta type i genetic and rare diseases. An unusual presentation of osteogenesis imperfecta type i core. Its publication is supported by oi australia inc and connected inc. Type iiv are autosomal dominant, and type vixiii are. Osteogenesis imperfecta oi is a heritable connective tissue disorder mainly caused by mutations in the genes col1a1 and col1a2 and is associated with hearing loss in approximately half of the cases. Dec 02, 2015 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Most cases of oi are caused by mutations in the type i procollagen genes, col1a1 and col1a2, and follow an autosomal.
Baljet, 2002 the nomenclature and classification of oi has evolved substantially. Osteogenesis imperfecta oi is a heritable skeletal disorder that, as the name implies, is caused by defective bone formation. Osteogenesis imperfecta oi, also known as brittlebone disease, is a genetic inherited disorder characterized by bones that break easily without a specific cause. Osteogenesis imperfecta radiology reference article.
Emqn best practice guidelines for the laboratory diagnosis of. Osteogenesis imperfecta oi is a genetic disorder that is usually caused by. Osteogenesis imperfecta is an inherited disease belonging to the group of genetic disorders, characterized by the reduced bone mass due to the violation of osteogenesis, which leads to the increased fragility of bones and is often accompanied by a blue coloration of sclera, teeth anomalies dentinogenesis imperfecta, progressive hearing loss. Nearly ninety percent are due to type i collagen mutations. Osteogenesis imperfecta oi is a rare, heritable systemic disorder of bone and connective tissue, which in almost 90% of cases is due to. The pathophysiology of oi involves mutations in genes encoding. Jun 26, 2014 osteogenesis imperfecta oi is a genetic bone fragility disorder characterized by low bone mass, skeletal deformity, and variable short stature. Osteogenesis imperfecta oi is a rare inherited disorder with a broad spectrum of clinical. Its major feature is a fragile skeleton, but many other body systems are also affected. In 2011, whole exome sequencing was used to identify serpinf1 as the causative gene for type vi oi table 1 and figure 1 17.
What is new in genetics and osteogenesis imperfecta. List of people with osteogenesis imperfecta wikipedia. 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. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type i collagen, but in the past 10 years discoveries of novel mainly recessive causative. It is, usually, autosomal dominant, which produces disorders in the synthesis of. Describe the role imaging professionals play in diagnosis and treatment. Reports of the incidence of type ii oi range between 1 in 40,000 to 1. Here, we present an overview of the genetic heterogeneity and pathophysiological background of oi as well as oirelated bone fragility disorders and highlight current therapeutic.
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