Fractures at diagnosis in infants and children with. Oi is predominantly caused by dominant mutations affecting type 1 collagen synthesis, with a number of other genes implicated in oi over recent years. In approximately 90% of individuals with osteogenesis imperfecta, mutations in either of the genes encoding the pro 1 or pro 2 chains of type i collagen col1a1 or col1a2 can be identi. How to apply for disability with osteogenesis imperfecta. Osteogenesis imperfecta great ormond street hospital. Multiple fractures are common, and in severe cases, can occur even. It primarily affects the bones, causing them to be fragile. Oi is caused by one of several genes that arent working properly. In 1835, lobstein coined the term osteogenesis imperfecta other names for oi. Osteogenesis imperfecta oi, commonly referred to as brittle bone disease, is a rare genetic disease with an incidence of 115 00020 000.
Ijo is typically discovered during evaluation of a chevrel g. Osteogenesis imperfecta oi is a group of inherited diseases responsible for. Diagnosis of osteogenesis imperfecta in children the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. It also affects sclerae, joints, tendons, heart valves and skin. Osteogenesis imperfecta oi is a rare inherited condition affecting 1. Listing a study does not mean it has been evaluated by the u. Other causes of brittle bones include osteomalacia, disuse osteoporosis, disorders of increased bone density and focal defects of bone, such as fibrous dysplasia and tumors. 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. Osteogenesis imperfecta oi is a genetic disorder in which bones fracture break easily. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. Pathophysiology and therapeutic options in osteogenesis. The term osteogenesis imperfecta means imperfect bone formation. Dec 02, 2015 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones.
Pdf osteogenesis imperfecta is a common heritable connective tissue disorder. What is osteogenesis imperfecta and what are some key concerns when caring for patients with this disorder. Oi had been thought to be an autosomal dominant bone dysplasia caused by defects in. Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta radiology reference article. Pathophysiology and therapeutic options in 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. Feb 24, 2020 osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. To address osteogenesis imperfecta s oi complex implications, the osteogenesis imperfecta clinic at kennedy krieger institute comprises an interdisciplinary team of medical professionals. Depending on the type, the inheritance of the disorder can be autosomal dominant. Four types of osteogenesis imperfecta were originally described by sillence in 1979 and are now used broadly as the sillence criteria. Jun 26, 2014 osteogenesis imperfecta oi is a genetic bone fragility disorder characterized by low bone mass, skeletal deformity, and variable short stature.
There is a wide variation in its clinical signs, characterized. Osteogenesis imperfecta in dogs symptoms, causes, diagnosis. Osteogenesis imperfecta is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Your symptoms may be mild or severe, depending on the type of oi you have. Osteogenesis imperfecta oi is a disease caused by a genetic defect in the qualitative and quantitative synthesis of type i collagen. Radiographs will also show a decrease in bone density. Osteogenesis imperfecta oi means bones formed imperfectly. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Oi is caused by genetic defects that affect the bodys ability to make strong bones. Mutations in the col1a1 and col1a2 genes, which encode the. Firsttri mester prenatal diagnosis of osteogenesis imperfecta type ii by dna analysis and sonography. This disease causes bones to be very weak and break with little or no trauma. The condition affects the bodys ability to produce collagen, a protein in the bodys connective tissue. Osteogenesis imperfecta oi is a disorder which causes the bones to break easily.
Patients can be seen by texas childrens experts in orthopedics. In the absence of clinical evidence of oi, a diagnosis of ijo can be given. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. Lobstein disease, brittle bone disease, bluesclera syndrome, and fragilebone disease 3. Osteogenesis imperfecta brittle bone disease types niams.
Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. The specific symptoms and physical findings associated with oi vary greatly from case to case. Osteogenesis imperfecta oi is a genetic condition present from birth. Read more about symptoms, diagnosis, treatment, complications. This information sheet from great ormond street hospital gosh describes osteogenesis imperfecta oi, what causes it and how it can be managed.
Prenatal diagnosis of osteogenesis imperfecta type ii. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Osteogenesis imperfecta or brittle bone disease, a heritable disorder of. Bridget parsh, edd, rn, cns, and holly wilson, bsn, rn, respond. Osteogenesis imperfecta type i genetic and rare diseases. It is a genetic condition that someone is born with and will always carry throughout their life.
It principally affects those tissues containing the main fibrilla collagen type i eg, bone and teeth. Multiple fractures are common, and in severe cases, can even occur before birth. Oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. 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. Pdf imaging in osteogenesis imperfecta semantic scholar. This means that osteogenesis imperfecta, or a subtype of osteogenesis imperfecta, affects less than 200,000 people in the us population.
The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility and hearing loss. Osteogenesis imperfecta oi, commonly referred to as brittle bone disease, is a rare genetic disease with an incidence of 11500020000. Osteogenesis imperfecta overview nih osteoporosis and related. Osteogenesis imperfecta is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen.
Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. Mutation in one of the type i collagen genes is commonly associated with osteogenesis imperfecta, but is not a pre requisite for the diagnosis. Osteogenesis imperfecta oi or brittle bone disease is a rare genetically transmitted defect in the production of collagen resulting in fragile bones. Osteogenesis imperfecta clinic kennedy krieger institute. Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. Patients suffering from osteogenesis imperfecta can have hundreds of bone fractures in a given lifetime. Recent findings mutations in the two genes coding for collagen type i, col1a1 and col1a2, are the most common cause of osteogenesis imperfecta. Sillence2 1department of clinical genetics, center for connective tissue disorders, vu university medical center, amsterdam, the netherlands 2discipline of genetic medicine, the childrens hospital at westmead clinical school, sydney medical school, university of. It exhibits a broad range of clinical severit y, rang ing from multiple fracturing in utero and perinatal death to normal adult stature and a low fracture incidence. Filing for social security disability with osteogenesis imperfecta oi type ii if your child has been diagnosed with type ii osteogenesis imperfecta, you may be overwhelmed by the emotional trauma of the diagnosis. The main consequence of osteogenesis imperfecta corresponds to an excessive fragility of the bones, which allows the emergence of fractures before minimal trauma or even spontaneously. Osteogenesis imperfecta nord national organization for.
Osteogenesis imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. Prognosis the outcome following a diagnosis of hypophosphatasia is variable. Osteogenesis imperfecta oi is a group of genetic disorders that mainly. There are four subtypes, all hereditary, but type ii, a lethal subtype, is the most frequently prenatally diagnosed. Early diagnosis is essential because regular screening for potential complications such as worsening osteoporosis, bone deformity, hearing loss and restrictive lung disease should be initiated. We present a case of a 34yearold, wheelchairbound, primigravid african zimbabwean patient with short stature and skeletal deformities. Osteogenesis imperfecta overview nih osteoporosis and. Osteogenesis imperfecta multisystemic and lifelong disease. The literal meaning of osteogenesis imperfecta is imperfect bone formation. Osteogenesis imperfecta oi is a congenital genetic disorder with skeletal or extraskeletal manifestations. 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.
This genetic defect in osteogenesis imperfect makes it impossible for the body to manufacture strong and sturdy bones. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. However, 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 the disorder that is not associated with collagen type 1 mutations see below. Making a diagnosis for a genetic or rare disease can often be challenging. 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. Osteogenesis imperfecta oi, also known as brittlebone disease, is a genetic inherited disorder characterized by bones that break easily without a specific cause. Diagnosis of osteogenesis imperfecta in children full. Feb 06, 20 earliest known case of osteogenesis imperfecta in a partially mummified infants skeleton from ancient egypt now housed in the british museum in london. An osteogenesis imperfecta diagnosis is typically made based on a patients complete medical history, a physical exam, and certain tests such as biochemical collagen or molecular dna tests. Perinatal lethal osteogenesis imperfecta oi type ii.
Osteogenesis imperfecta oi is a rare disorder of type 1 collagen with currently identified types attributable to inherited abnormalities in type 1 collagen amount, structure, or processing. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Osteogenesis imperfecta oi is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily brittle bones, often without apparent cause. At present, 17 genetic causes of oi and closely related disorders have been. There are four types of osteogenesis imperfecta, which vary greatly in how severe they are. There are four types of osteogenesis imperfecta, which vary greatly in. Osteogenesis imperfecta types ixi ceconnection for nursing. Osteogenesis imperfecta oi is an inherited genetic bone disorder that is present at birth. Healthcare professionals typically look at a persons medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The condition presents complex challenges on anatomical, medical and sociopsychological levels. However, it is often though not always possible to diagnose osteogenesis based solely on clinical features. In pregnancies complicated by osteogenesis imperfecta, there is an increased risk to both the mother and fetus. It is caused by a mutation to the gene that controls the production of collagen, which gives strength to the structure of bone and connective tissue and is found in bone, muscle, ligaments, skin, eyes, ears and heart muscle. Osteogenesis imperfecta oi is a genetic disorder that affects the bones.
When these genes dont work, it affects how you make. Osteogenesis imperfecta case presentation medicine. 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. Osteogenesis imperfecta is a systemic heritable disorder of connective tissue whose cardinal manifestation is bone fragility. Osteogenesis imperfecta genetics home reference nih. The antenatal and postnatal diagnosis of the disease using diff erent radiographic methods plain radiography. Feb 24, 2020 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. Diagnosis of osteogenesis imperfecta in children full text. Osteogenesis imperfecta is a heterogeneous group of hereditary disorders characterised by the anomalous formation of type i collagen. Phenotypic features and mode of inheritance, clinical features, and radiographic fi ndings make the basis for the currently accepted classifi cation system of oi. Clinical diagnosis, nomenclature and severity assessment f.
Find out diagnosis, treatments, and living with oi. May 30, 2017 diagnosis of osteogenesis imperfecta in children the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. People with oi also have weak muscles and bone deformities. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily. Osteogenesis imperfecta oi is a disease that causes your bones to break fracture easily. Osteogenesis imperfecta oi is a genetic disorder that causes a persons bones to break easily, often from little or no apparent trauma. Osteogenesis imperfecta oi refers to a heterogeneous group of congenital, nonsexlinked, genetic disorders of collagen type i production, involving connective tissues and bones. The differential diagnosis for recurrent fractures due to low bone density varies somewhat by age. Aug 24, 2016 osteogenesis imperfecta oi is an inherited condition causing increased fragility of bone. Osteogenesis imperfecta is a rare connective tissue disorder of varying phenotypic presentations. Sometimes the fractures happen for no known reason. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause.
Type i osteogenesis imperfecta is the result of a dominant gene. In the discussion below, it is presumed that other causes of fractures mentioned above increased bone density, focal lesions of bone, etc. Feb 16, 2018 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. In addition to fractures broken bones, people with oi sometimes have muscle weakness, loose joints joint laxity, curvature of the spine scoliosis, brittle teeth. In 1835, lobstein coined the term osteogenesis imperfecta and was one of the first to correctly understand the etiology of the condition. Osteogenesis imperfecta from the national institutes of health. Oi varies in severity from person to person, ranging from a mild type to a severe type that causes death before or shortly after birth. Osteogenesis imperfecta case presentation free download as powerpoint presentation. Osteogenesis imperfecta nursing care management and study guide. Joey, a six year old boy with osteogenesis imperfecta type viii, presented to the emergency department with his mother after hitting his left thigh off a table while driving his electric wheelchair. Sep 24, 2017 osteogenesis imperfecta now have additional genes that cause brittle bones and is slowly spreading across generations and countries osteogenesis imperfecta is a disorder of bone fragility chiefly caused by mutations is the col1a1 and col1a2 that encode type i procollagen. The diagnosis is made from clinical, genetic and radiographic features.
This comprehensive team ensures a thorough evaluation of patients individual needs. Clinical diagnosis of oi is based on the signs and symptoms. Osteogenesis imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Cases with severe deformities at birth requiring a ventilator to breathe almost invariably result in death within days or weeks. Osteogenesis imperfecta, child abuse, fractures, infant, prenatal diagnosis introduction 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.
Osteogenesis imperfecta symptoms, diagnosis, treatments and. Assessing and managing osteogenesis imperfecta nursing times. In the differential diagnosis of pathologic or recurrent fractures there are many disorders where the etiology of bone fragility is different from that of oi. In more severe forms of osteogenesis imperfecta, these fractures begin to occur during. Its primary feature is fractures usually caused by minimal impact. People with this condition have bones that break fracture easily, often from mild trauma or with no apparent cause. Anyone can be born with oi, but people who have family members that have it are more likely to get it. Osteogenesis imperfecta is a serious lifelong condition that needs to be managed through an interdisciplinary medical approach to maximize a childs quality of life and ability to function.
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