Brittle bone disease pdf

Osteogenesis imperfecta, also named as brittle bone disease, is characterized by fragile bones and short stature caused by mutations in the collagen gene. The mutation in the genes, col1a1, col1a2, crtap, and p3h2 result in. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. For example, a person may have just a few or as many as several hundred fractures in a lifetime. Brittle bone disease or osteogenesis imperfecta oi is characterized by a fragile skeleton. Osteogenesis imperfecta oi, or brittle bone disease, is caused by mutations in the collagen type i genes col1a1 and col1a2 or other collagen genes for rarer types of oi, causing production of a defective collagen type i that results in significant alterations in different tissues in the body. In the 20th century, it became clear that oi was a disease showing remarkable. Its typically present at birth, but it only develops in children who have a family history of the disease.

Osteogenesis imperfecta overview nih osteoporosis and. The bone fragility has led to the adoption of the trivial name of. Oi is a disorder of collagen, a protein which forms the framework for the bone structure. It is characterised by bone fragility due to low bone mass giving an increased fracture incidence kocher and shaprio, 1998. Osteogenesis imperfecta types ixi ceconnection for nursing. Osteogenesis imperfecta oi, also called brittle bone disease, is a rare heterozygous connective tissue disorder that is caused by mutations of genes that affect.

Osteogenesis imperfecta oi is a group of inherited diseases responsible for varying. Osteogenesis imperfecta oi is a disorder which causes the bones to break easily. Oi, often referred to as brittle bone disease, is a rare bone disorder characterized by bone fragility fracturing with littletono trauma, short stature, long bone deformities, bone pain, low muscle mass, persistently blue sclera in some, and hypermobility. Webmd explains the causes, symptoms, and treatment of. Brittle bone disease, or osteogenesis imperfecta, is a lifelong and potentially lifethreatening disorder that makes bones break very easily. Temporary brittle bone disease is the name given to a syndrome first reported in 1990, in which fractures occur in infants in the first year of life.

Osteogenesis imperfecta oi, or brittle bone disease, is caused by mutations in the collagen type i genes col1a1 and col1a2 or other. Osteogenesis imperfecta oi is a hereditary disorder of connective tissue that is characterized by bone. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. The testimony of pediatric radiologists can be crucial in the differentiation of child abuse from accidental fractures, metabolic diseases, and other. Brittle bone disease is a disorder that results in fragile bones that break easily. The condition affects the bodys ability to produce collagen, a protein in the bodys connective tissue. Pdf we report a case of a female patient, 27 years old, with several episodes of fractures after low energy trauma and the first documented episode. Osteogenesis imperfecta also known as brittle bone disease is a phenotypically and genotypically heterogeneous group of inherited bone dysplasias. In 1974, bone collagen aggregation abnormalities were described by scanning. The brittle bone disorders consortium bbd is an integrated group of. Types of osteogenesis imperfecta oi brittle bone disease. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. Brittle bone disease osteogenesis imperfecta texas childrens.