...Osteogenesis imperfecta: The Brittle Bone Disease Kathleen Franco Nebraska Methodist College Introducing OI Osteogenesis imperfecta is a genetic disorder affecting bone tissue within the human body. The disorder causes a reduced strength in the bone tissue, resulting in multiple and frequent fracturing and possible limb deformities. Osteogenesis imperfecta, also referred to as “brittle bone disease,” and abbreviated as “OI,” can come in a variety of eight types. The types range in severity from very severe to quite mild. The disorder can be fatal in some cases, and very manageable in others. (OIF) (The New York Times) A Quick Look at OI Osteogenesis imperfecta is genetic, meaning the person affected is born...
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...breaks, losing body extremities, and cerebral palsy (Heller, 2001). Pupils with bone disorders seldom are in regular classrooms. This paper evaluates an orthopedic and musculoskeletal disorder along with an advocated educational intervention: Osteogenesis Imperfecta. Musculoskeletal Disorders Bottom of Form Osteogenesis imperfecta is also known as the “brittle bone” disorder. It is an inherited disease where a person’s bones are broken with no problem. Almost all incidences of osteogenesis imperfecta are triggered by a domineering chromosomal imperfection. A lot of the population of kids that have osteogenesis imperfecta were born with this disease and they received it from one or both of their parents and other children that have this disease have no idea how or why they got it because no one in their family has had this ailment. There are four types of osteogenesis imperfecta that researchers have identified and these are Type I, Type II, Type III, and Type IV. The signs and symptoms of osteogenesis imperfecta range from mild (Type I) to severe (Type II to IV). Mild osteogenesis imperfecta only has half of the standard volume of required collagen (connective tissue), but anatomically alright. Severe osteogenesis imperfecta can be the reason for some still births and perinatal deaths, this...
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...Prognosis of Osteogenesis Imperfecta Anitra Swann Baltimore City Community College Professor McNair AH 130 October 18, 2011 Abstract Osteogenesis Imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. It exhibits a broad range of clinical severity, ranging from multiple fracturing in utero and perinatal deaths to normal adult stature and a low fracture incidence. The disorder is currently classified into seven types based on differences in bone architecture. In addition to its primary effect on the skeletal system, the alterations in connective tissue may affect several extra skeletal structures, such as the cardiovascular system, sclera, middle and inner ear, tendons/ligaments, and central nervous system. Patients with Osteogenesis Imperfecta also have a greater incidence of airway anomalies, cardiovascular anomalies, and increased incidence of perioperative bleeding, easily fractured bones and teeth. 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. This paper will examine the causes, treatment, and prognosis of Osteogenesis Imperfecta. Student Examination into the Causes, Treatment, and Prognosis of Osteogenesis Imperfecta Osteogenesis Imperfecta (OI) is an abnormally brittle bone disease that is inherited. The term Osteogenesis Imperfecta means “imperfect...
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...8th, 2014 Osteogenesis Imperfecta Osteogenesis Imperfecta (OI), also known as “brittle bone disease” , is a genetic disease that causes bones to fracture easily. This disease is not transmitted to humans over time, people are born with it. The cause of this disease is a mutation on a gene that affects the production of collagen in bones. Due to the poor production of collagen, bones become fragile and weak, leading to continuous fractures. OI, is genetically transmitted by a dominant mutation in COL1A1 or COL1A2 genes. This mutation on cartilage can be inherited to later generations in an autosomal dominant manner, but due to further investigations nowadays, it has been discovered that the genetic disease can also be inherited in an autosomal recessive manner, though this is really uncommon. The genetically transmitted disease is often confused with child abuse. Children are often brought to hospitals with multiple fractures in the femur, tibia,...
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...Special Class Discussion OI or Osteogenesis Imperfecta, which is commonly referred to as Brittle Bone disease. It causes Isaiah to be susceptible to fractures and breaks in his bone very easily. Isaiah was diagnosed with type III OI during the second trimester (20 weeks), which is a very severe form, but survivable. Though the diagnosis was not the best, the couple, Vicky and Dave, have made the most out of the situation. From what I have had the opportunity to observe via the blog, Isaiah is living a full life given the circumstances. Full of Disney whimsy and seasonal outings just as any kid would experience. I love the fact that his parents are both very understanding and even tempered people, from what they present in the blog. Making the childs life as stress free as possible. Though they try not to focus on the hardships in their blog, some of it is very apparent when you read between the lines. One instance is when Vicky wrote about how she could not tell if Isaiahs moaning and crying was due to hunger, a fever or a fracture. The condition carries a huge burden, regardless of how hard the parents try and normalize his life. The parents try and maintain a positive atmosphere, but in my mind I am very curious as to what toll it is taking on their physical and emotional health? Questions: 1) Do you have any plans for Isaiah as he gets older? Education? 2) How is Isaiah in social situations with other children? 3) Does Isaiah have any favorite activities...
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...Osteogenesis Imperfecta is a rare hereditary disorder that affects the connective tissue and causes extremely brittle bones which are in turn easily broken and deformed. There are multiple subdivisions of the disorder, ranging from Type I, Type II, Type III, and Type IV. Although the subdivisions go by number, the most serious and dreaded is Type II, which is also classified as Vrolik Disease. The symptoms could range from a very mild case, or a very severe case with multiple complications. Usually, Osteogenesis Imperfecta is inherited as autosomal dominant traits, but in some cases, it is otherwise. A common form of the disease is Type I, which does not result in the severe complications and is the most mild out of the four major subdivisions of the disease ("Osteogenesis Imperfecta"). Although there are four main types of Osteogenesis Imperfecta, the most common and most mild version of the disease is classified as Type I. Like other versions of the disease, the main consequence of Type I is easily fractured bones. Since is the mildest version, most fractures occur before reaching puberty, but can sometimes occur to women when they enter the menopause phase. A unique part of this subdivision is that it can cause curvature of the spine also known as Scoliosis. The face is also affected by having a triangular face, blue sclera, and a lot of dental problems. The disease can also cause hearing loss by the time they are in their 20s or 30s. Another similarity it shares with the...
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...conditions, such as kidney failure, are not addressed. (Mayo Clinic, Disease & Condition Osteomalacia, 1998-2014) Osteogenesis Imperfect Osteogenesis Imperfect (OI) which means "imperfectly formed bone" or otherwise called brittle bone disease is a congenital disorder that results in fragile bones that break easily. When it occurs, it is present at birth, but only in babies who have a family history of the disease. Brittle bone disease can range from mild to severe. Most cases are mild, resulting in few bone fractures. However, the severe forms of the disease can cause hearing loss, respiratory or heart failure, spinal cord and brain stem problems, and permanent deformities. In some forms, the disease is fatal to babies either before, or shortly after birth. (According to the National Human Genome Research Institute (NHGRI), approximately three people in 50,000 are born with brittle bone disease. It occurs equally among each sex and race.) (Solution, 1997-2014) Cause of osteogenesis imperfect (OI) Brittle bone disease is caused by a genetic defect that affects the production and formation of type 1 collagen, a protein used to create bone. The defective gene is usually inherited, but in some cases the defect occurs due to a spontaneous mutation. (Healthline,Brittle Bone Disease (Osteogenesis Imperfecta), 2005-2014) 1. Direct Inheritance from a Parent A person with OI has two genes for type 1 collagen--one gene is faulty, the other is normal. Each time that person conceives a child...
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...“Quality of life in children and adolescents with Osteogenesis Imperfecta: a qualitative interview based study” is a research article by Claire L. Hill, Wendy O. Baird, and Stephen J. Walters. Osteogenesis Imperfecta (OI) is a bone disorder that is typically hereditary and quite rare, and it results in low bone mass, frequent fractures, and a short stature. According to the article, only one in 20,000 people suffer from this disorder, and there are two types: type one being mild and type two being more severe. This study observed children and their parents and how OI has affected their quality of life. Ten children, ten parents, and five health professionals were interviewed. This study used phenomenology which studies a person’s experience...
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...In all reality the decision to terminate a pregnancy is layered and complex. Abortions are very often performed on pregnancies that are potentially fatal for the mother or will bring fetuses with profound abnormalities and disabilities term. In the case of Carrie DeKlyen, a 37 year old mother of five who was diagnosed with brain cancer, a choice had to be made. Deklyen had to choose whether or not to pursue medical treatment or continue her pregnancy. Though she ultimately choose to save her child the fact that she was given a choice is pertinent.(Cite Washington post) Occasionally medical diagnoses hold significant sway over the option of abortion. Osteogenesis imperfecta (OI) type II is a genetic disorder that causes extensively fragile bones. Fetuses with osteogenesis imperfecta type II experience intrauterine breaks and typically do not live past a few weeks. My mother was put in a position to either bring a fetus who would live a short and painful life into this world, or terminate the pregnancy before my brother could suffer. Abortion saved both my mother and late brother untold amounts of pain. Rebuttals have been made that abortions based on genetic abnormalities (eugenic termination) is blatant discrimination. It is arguable, however, that bringing a child into the world where it will only suffer is undeniably cruel and inhumane. I would have a difficult time discriminating against a fetus that...
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