Pathophysiology and therapeutic options in osteogenesis imperfecta. Causes of osteogenesis imperfecta, type 2 right diagnosis. Osteogenesis imperfecta oi is a genetic disorder in which bones fracture break easily. Fractures at diagnosis in infants and children with. Most oirelated deaths result from respiratory failure due to weak lungs. Temporomandibular disorders and psychosocial status in. Mortality and morbidity in patients with osteogenesis imperfecta in. Osteogenesis imperfecta is an inherited disorder of collagen synthesis.
Osteogenesis imperfecta in children nyu langone health. Osteogenesis imperfecta is an inherited disorder of type 1 collagen that results in varying degrees of bone fragility. This is best accomplished by a program combining early intervention. It primarily affects the bones, causing them to be fragile. The earliest known case of osteogenesis imperfecta oi is in a partially mummified infants skeleton from ancient egypt now housed in the british museum in london. Collagen testing of a skin biopsy sample or dna testing of a blood sample can help confirm a diagnosis of oi in most situations. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. Radiographs will also show a decrease in bone density. The condition affects the bodys ability to produce collagen, a protein in the bodys connective tissue. 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. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. A positive collagen type 1 study confirms the osteogenesis imperfecta diagnosis, but a negative result leaves open the possibility that either a collagen type 1 mutation is present but was not detected, or the patient has a form of osteogenesis imperfecta that is not associated with collagen type 1 mutations.
Moderate short stature is common, but ambulation is generally possible with the aid of. Research is currently being done on the use of smart. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. Osteogenesis imperfecta oi is characterized by a number of deviations in the orofacial region. The differential diagnosis for recurrent fractures due to low bone density varies somewhat by age. Osteogenesis imperfecta oi may be caused by changes mutations in any of several genes. However, sometimes it is necessary to perform laboratory tests in order to confirm the disease. At the present time, the ability to care for these individuals, by combining the benefits of. Diagnosis of osteogenesis imperfecta in dogs xrays will be done and will show multiple bone fractures that have occurred recently, as well as fractures in the process of healing.
Diagnosis of oi is based primarily on clinical signs. Threedimensional ultrasound in the prenatal diagnosis of. Ijo is typically discovered during evaluation of a chevrel g. Niams publication ordering system national institute of. Medical treatment consists of bisphosphonate use, even in patients younger than age 2 years.
The factors cited above combine to create a situation in which physiotherapy and. This fact sheet contains information on osteogenesis imperfecta. Orthopedic experts at hassenfeld childrens hospital at nyu langone and nyu langone orthopedic hospital are experienced in distinguishing between everyday bone fractures and osteogenesis imperfecta, a lifelong genetic condition that weakens bones and. Oi is predominantly caused by dominant mutations affecting type 1 collagen synthesis, with a number of other genes implicated in. In 1835, lobstein coined the term osteogenesis imperfecta and was one of the first to. Oi is most commonly due to a variation mutation in either the collagen genes col1a1 or col1a2 gene, which cause oi types i through iv. In the absence of clinical evidence of oi, a diagnosis of ijo can be given. It is a genetic condition that someone is born with and will always carry throughout their life. Osteogenesis imperfecta is a heritable disease that may result in bone fragility, increased joint laxity, decreased muscle tone, thinning of the skin, a bluish appearance of the sclerae, and. It has a wide range of phenotypic expressions, but cardiovascular anomalies tend to be rare. The interdisciplinary healthcare team helps the family to improve the childs functional outcomes and to provide support to the parents as they learn to care for their childs needs. The most severe types will result in death at birth or soon after. Traditionally oi was classified into oi types i to iv and thought to be only due to a defect in the collagen gene, however through the discovery of the new types of oiv to vii, breakthroughs have been made in understanding the pathophysiology of autosomal recessive oi and. Osteogenesis imperfecta oi is a progressive condition that needs lifelong management to prevent deformity and complications.
Differential diagnosis of osteogenesis imperfecta in children. Osteogenesis imperfecta oi is characterized by brittle bone with an excessive tendency to antenatal andor postnatal fractures, blue sclerae, deafness, and. Less severe symptoms do not affect life expectancy. Osteogenesis imperfecta oi is characterized by susceptibility to bone fractures, with a. Diagnosis of oi is based on clinical criteria, referring primarily to the sillence. Complex childhood osteogenesis imperfecta service nhs england. Differential diagnosis thanatophoric dysplasia, achondrogenesis type i. Osteogenesis imperfecta oi is a heritable bone dysplasia characterized by. Osteogenesis imperfecta, tissue disorder, fragile bones, weak muscles, loose ligaments, short stature, long bones. To research the causes of osteogenesis imperfecta, type 2, consider researching the causes of these these diseases that may be similar, or. Osteogenesis imperfecta type ii is a lethal type of osteogenesis imperfecta. In infants or children who present with unexplained or multiple fractures, the differential diagnosis includes the infant or child having an inherent predisposition to skeletal fractures, 1,2 the most common of which is osteogenesis imperfecta oi 3.
People with this condition have bones that break fracture easily, often from mild trauma or with no apparent cause. The first case of osteogenesis imperfecta type v in the polish literature is reported. 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. Classification of oi, clinical features and differential diagnosis. Pdf on feb 10, 2012, roy morello and others published osteogenesis imperfecta. Rather, a combination of information is used to diagnose this disorder. Treatment of patients with oi is a complex task which requires a. 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. 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. Osteogenesis imperfecta is a disorder of connective tissue characterized by thinwalled, extremely fractureprone bones deficient in osteoblasts boneforming cells, as well as by malformed teeth, blue sclerae, and progressive deafness. Request pdf osteogenesis imperfecta osteogenesis imperfecta is a genetic. Last published 122018 please note that online information may be more recently updated than printed materials.
Ifitm5 pathogenic variant causes osteogenesis imperfecta v with. Osteogenesis imperfecta oi means bones formed imperfectly. Severe forms of oi mainly type ii can be diagnosed by ultrasound during the second trimester of pregnancy 5, 6. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta oi refers to a heterogeneous group of congenital, nonsexlinked, genetic disorders of collagen type i production, involving connective tissues and bones.
Osteogenesis imperfecta oi is a genetic bone fragility disorder characterized by low bone mass, skeletal deformity, and variable short stature. Brittle bone disease rare genetic disorder in which bone are fragile and fracture easily resulting in bone deformity an autosomal dominant disease a person with oi has a 50% chance of passing on the gene and the disease to their children. One patient had no visible symptoms of oi type v and was suspected to have. Current approach to diagnosis and treatment of children with.
For example, a person may have just a few or as many as several hundred fractures in a lifetime. 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 is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Osteogenesis imperfecta oi is a disease that causes your bones to break easily. Fast facts on osteogenesis imperfecta accessed 5282015. Symptoms may be mild or severe, depending on the type of oi you have. Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. The interdisciplinary healthcare team helps the family to improve the functional outcomes and to provide support. Osteogenesis imperfecta oi is a group of inherited diseases responsible for varying degrees of skeletal. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Osteogenesis imperfecta oi cannot be diagnosed through one specific test. Pathophysiology and therapeutic options in osteogenesis.
Osteogenesis imperfecta oi, or brittle bone disease is a clinically and. The collagen genes play a role in how the body makes collagen, a material that helps to strengthen the bones. Oi patients were examined according to the research diagnostic. Amongst the type i collagen gene mutations that can occur, missense base substitutions involving glycine codons in the exons. Sometimes the fractures happen for no known reason. Prenatal and postnatal diagnosis of oi with clinical examples.
In the discussion below, it is presumed that other causes of fractures mentioned above increased bone density, focal lesions of bone, etc. Osteogenesis imperfecta brittle bone disease types niams. Osteogenesis imperfecta overview nih osteoporosis and. At the 2009 meeting of the international nomenclature group for constitutional disorders ichg of the skeleton incds published as 2010 nosology, a decision was finally made to group the known oi syndromes into five groups, that is, preserving the primary four groups and adding oi type v. A recent study investigated a rehabilitation approach combining. Radiographic features of osteogenesis imperfecta ncbi. There has been a remarkable expansion in the complexity of the genetic mechanisms that result in a clinical diagnosis of osteogenesis imperfecta oi. Osteogenesis imperfecta genetics home reference nih. The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility and hearing loss.
The term osteogenesis imperfecta means imperfect bone formation. Osteogenesis imperfecta is a hereditary pathology characterized by the osseous fragility, which causes increasing severe deformities in patients. The lethal form of oi can be detected in a fetus during a womans pregnancy by using an ultrasound exam. This genetic disorder continues to be the paradigm for understanding the molecular basis of heritable connective tissues and evaluating. We report a particular observation of 16 year old adolescent boy who presented with tardy form of osteogenesis imperfecta. Indeed, the newer forms of osteogenesis imperfecta types v, vi and vii are not associated with type i collagen gene defects. Osteogenesis imperfecta, type 2 is predominantly caused by mutations in the col1a1 gene or col1a2 gene, both of which make type i collagen. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. Skeletal survey of an 8 year old girl with a history of multiple fractures and bilateral dislocation of radial heads was received for consultation. 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 pcr reaction was performed with 5x hot firepol blend. Type i osteogenesis imperfecta is the result of a dominant gene. Osteogenesis imperfecta a clinical update sciencedirect. A novel mutation combining with rs66612022 in a chinese pedigree.
Surgical treatment consists of internal splinting of long bones. Osteogenesis imperfecta oi is a rare heritable condition characterized by bone fragility and reduced bone mass. Diagnosis of osteogenesis imperfecta may be done prenatally in severe cases, clinically, radiographically, or via biochemical or genetic examination. It describes the genetic cause, prevalence, diagnosis, clinical features, prognosis, and treatment of this disorder. The osteogenesis imperfecta society can also be an important resource.
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