Osteogenesis imperfecta

Introduction Osteogenesis imperfecta describes a group of genetic disorders that are colloquially known as “brittle bone disease” and is estimated to affect around 7 out 100,000 people around the world. As the name suggests osteogenesis imperfecta is characterized by imperfect formation of the bones that leads to frequent fractures or breaks from minor trauma (Rauch et al., 2004). Depending on the severity of symptoms the impact to an affected individual 's life can differ. This paper will supply the necessary information for patients or those with family and loved ones afflicted by osteogenesis imperfecta to manage and understand their condition. Focusing on the four main classifications of osteogenesis imperfecta; the causes, symptoms and…

Osteogenesis Imperfecta Osteogenesis imperfecta, also known as “brittle bone disease”, is a genetic disorder characterized by fragile bones that break easily. Osteogenesis imperfecta is caused by a lack of collagen in the bones that affect the body’s ability to make strong bones. Collagen is the major protein of the body’s connective tissue. In dominant Osteogenesis imperfecta, a person has either a lack of type 1 collagen or a poor quality of type 1 collagen, caused by a mutation in one of the…

Osteogenesis Imperfecta in Children Every week in the popular medical drama, “Grey’s Anatomy,” written by Shonda Rhimes, there is some sort of interesting case of a rare condition that makes for good television. For Doctor April Kepner and Doctor Jackson Avery that is finding out they are expecting a baby who is diagnosed with Type II osteogenesis imperfecta. They were told that their baby was suffering from this disease even from inside the womb. Osteogenesis imperfecta, or “brittle bones…

Osteogenesis Imperfecta (OI) is a genetic disorder that affects the formation of bones. The term Osteogenesis Imperfecta literally means imperfect bone formation. People with OI have bones that break easily, usually caused by a mild trauma or no cause at all. Multiple fractures are common with this disease since bones are weak. Although, in severe cases fracture of bones can occur before birth. This disease is caused by defective connective tissue and the lack of Type One Collagen. There are…

Osteogenesis Imperfecta is a genetic disorder that causes extremely brittle bones. This disease can cause bones to break, people can have hundreds of fractures throughout their lifetime due to Osteogenesis Imperfecta. Most of Osteogenesis Imperfecta cases are caused by a dominant genetic mutation which would be types 1-4. Types 5 -8 are inherited by a recessive mutation. Although in some rare occasions is could be a new genetic mutation. The term “Osteogenesis Imperfecta” was originated by W.…

Three imaging modalities commonly used in the diagnosis, assessment, and treatment of Osteogenesis Imperfecta patients include: diagnostic medical sonography, diagnostic x-ray, and bone densitometry. Osteogenesis Imperfecta (OI) is a genetic disease affecting the quantity and structure of collagen that is normally found in connective tissues, bones, and the sclera, or white portion of eyes. It is estimated that this condition affects 1 in 10,000 to 1 in 20,000 births (Antoniazzi, Mottes,…

Research Paper: Osteogenesis Imperfecta What is Osteogenesis Imperfecta? Osteogenesis Imperfecta is a genetic brittle bone disorder. The disorder is characterized by bones that easily break, due to little or no apparent cause. A classification system of several different types of Osteogenesis Imperfecta is used to diagnose just how severely a person with Osteogenesis Imperfecta is affected. The severity of Osteogenesis Imperfecta varies from case to case, even among cases of the same type of OI…

Osteogenesis Imperfec’ta Osteogenesis imperfecta (OI) is a genetic disorder that causes the bone to be fragile and break easily. It is also known as “brittle bone disease”. It is caused when there is a lack of collagen production. Collagen are what makes the bone strong, and the lack of collagen causes the bones to be weak and fragile, making it easier for it to break. OI affects 1 in 20,000 people. In the United States alone it is estimated to affect 20,000 at a minimum rate and 50,000 at the…

Osteogenesis imperfecta (OI) is a genetic disorder that affects the skeletal system. The disorder affects the bones, it makes them fragile and easy to break. OI has many different types; type I one being the most common and mildest, and type II is the most severe. The first case of OI was found in a partially mummified infant's skeleton found from ancient Egypt. In 1835, Jean Lobstein made the term for osteogenesis imperfecta and was the first to correctly understand the causes of the disorder. …

Willis and Samuel L. Jackson? Jackson plays a villain who has osteogenesis imperfecta. He is so brittle that he is born with broken arms and legs. With every step he takes he is at risk for injury. What about Grey’s Anatomy? Anybody watch that? Two of the main characters in the show, were expecting a baby with Osteogenesis Imperfecta Type II. The baby dies within the hour of being born due to this disease.…