Osteogenesis imperfecta Osteogenesis imperfecta is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People that suffer from this condition have bones that break or fracture easily; also giving it its more well-known name “brittle bone disease”. These bone fractures often occur from mild trauma or even with no apparent cause. There are eight recognized forms of osteogenesis imperfecta, they range from type I to type VIII. The types can be differentiated by their signs and symptoms, although the main characteristic features overlap between each other. Type I is the mildest form while type II is the most severe form of Osteogenesis imperfecta; the other types of this …show more content…
It is similar to Type IV in terms of frequency of fractures and the degree of skeletal deformity o Large calluses in the largest bones at fracture or surgical procedure sites are the signature of this type o The calluses can also happen randomly
• Type VI:
o Extremely rare. It is moderate in severity and similar in appearance and symptoms to Type IV o Distinguished by a characteristic mineralization defect
• Type VII:
o It is common for leg bones, humerus and femur to be short o Short stature o Recessively Inherited
• Type VIII:
o Similar to Types II or III in appearance and symptoms except for white sclerae o Characterized by severe growth deficiency and extreme under-mineralization of the skeleton o Recessively Inherited
(Types of OI,
My disease diary is growth plate fracture. The growth plate or the epiphyseal plate also
Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme fragility of the bones also known as ‘brittle bone disease’.
There are two types of osteoporosis that have been identified which are primary and secondary. Osteoporotic bones are thin and brittle and are prone to fracture. The bone loss involves both compact and spongy bone. In type I osteoporosis, which occurs typically in postmenopausal women, spongy bone loss predominates, occurring most prominently in the vertebrae and distal radius (Gueldner, Burke, Smiciknas-Wright, 2000). Major complications of type I osteoporosis are crush fractures of the vertebral bodies and the distal end of the radius. Type II, or old-age, osteoporosis is characterized by a proportional loss of compact and spongy bone of the long bones (Gueldner, Burke, Smiciknis-Wright). The most serious fractures of old age are those of
Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).
Osteoclasts break down bone tissue during the remodeling of bones. The malignant infantile form happens when an infant inherits a copy of the defective gene from both of the parents. For the adult form to occur, however, only one defective gene is necessary. Most of the time, however, the inherited gene is not what causes osteopetrosis. Normally the adult form is caused by a newly formed defective gene that came about at the time of
These types of treatments can be very successful for one with a not so severe case of Osteogenesis Imperfecta, however someone with a more severe case may find it difficult to treat the disease. According to Medline Plus, Type I Osteogenesis Imperfecta is the mildest type and it is easiest to live with (Osteogenesis). Treatments such as physical therapy and bisphosphonates will help treat this type, and one with this type will have a normal life expectancy. Type II is the most severe case. “With Type II Osteogenesis Imperfecta a child will most likely die within the first year of being born” (Osteogenesis). Type III is more severe than Type I, many fractures
This patient is most likely presented with osteogenesis imperfecta. This disease is characterized by a group of genetic disorders that mainly affect the bones, in which the patients have their bones break easily resulting either from mild trauma or no apparent cause. Multiple fractures are commonly seen, and in severe cases, can occur even before birth. In milder cases only a few fractures may be seen. There are several types of OI, at least eight recognized forms of osteogenesis imperfecta, from type I through type VIII. They can be distinguished by their signs and symptoms, although their characteristic features may overlap (Greeley, et al., 2013). This patient apparently has the severe forms of osteogenesis imperfecta, including type I, which are characterized by bone fractures during childhood that often result frequent bone fractures from little or minor trauma. This child presented with a blue or grey tint to the part of the eye that is usually white,
Have you ever watched a video from the kid president? Do you know the character named Brick in the show “The Middle”? The boys who star in these shows both have something in common. They have osteogenesis imperfecta (OI). It is also known as brittle bone disease or Lobstein syndrome. OI causes the bones to be so brittle that even small movements or impacts can cause a break. These breaks are what often causes the diagnosis to come about. It can also cause the whites of a person’s eyes to turn blue and can cause hearing loss. It’s obvious that the condition can also cause chronic pain, bone deformity, small stature, spinal curvature and depression.
It is characterized by the severe skeletal deformity, weak bone mineralization and multiple fractures intrauterine, prior to birth. OI type III is the most severe of the 4 most common that is compatible with life after the perinatal period. A progressive skeletal deformity is present, sometimes present in the birth. Due to this, in the adult age those affected usually present short stature, in addition to being generally dependent on wheelchairs for the rest of their lives, without treatment. Patients often present with fractures soon after birth and in the adult period. Dentinogenesis imperfecta is very common, mainly in the first dentition, such as progressive hearing loss with age. The most variable group clinically, In OI type IV, the effect goes from mild to severe. Usually dentinogenesis imperfecta, not so much the hearing loss; The height is relatively low according to the degree of skeletal deformity, sclera is usually normal, and most of the patients can wander. OI type V has moderately deforming, without blue sclera or dentinogenesis imperfecta. It is characterized by hypertrophic calluses at fracture sites and the mineralization of interosseous membranes. The molecular cause is unknown but heredity appears to be autosomal dominant. OI type VI goes from moderate to severe deforming, without blue sclera or
Osteogenesis Imperfecta, also known as brittle bones disease, is a disease that was found in ancient Egypt. A mummified infant’s skeleton is now housed in the British Museum in London (Bhandari 2008). Many symptoms occur when a person has the disease which varies from mild to severe depending on the person. Symptoms include malformed bones, a short small body, weakness in muscles, curved spine, hearing loss, and a triangular face. Also, the sclera, or the whites of the eyes look gray or purple. To diagnose Osteogenesis Imperfecta or OI for short, doctors look at medical history, family history, x rays, as well as doing a physical exam. OI has no cure, but the symptoms of the disease can be managed. Some treatments for OI may be pain medication,
I like most people have to overcome challenges in my life, my challenge is my bone condition, Osteogensis Imperfecta (OI). I didn't develop OI overnight, this bone condition is a mutation in the making for type one collagen that I inherited. I have inherited this genetic condition from my dad. His inheritance is unknown. Osteogensis Imperfecta causes my bones to be more fragile and break, and I will be affected by this challenge my whole lifetime. OI causes collagen and other tissues to be a low 'supply' for my body. In this time in history there is no cure.
Osteogenesis Imperfecta (OI) is a genetic disorder that involves defective development of the connective tissue. The collagen production found in bones and other tissue is affected by a gene mutation. It is also known as “brittle bone disease.” Osteogenesis Imperfecta is inherited as an autosomal-dominant trait. It is characterized by abnormally brittle and fragile bones that are easily fractured by the least amount of trauma. OI affects both boys and girls the same and one out of 10,000 live births have been confirmed with the disease. There are four types of IO, they are type I, type II, type III and type IV. With type 1 being more common in infancy with a normal life expectancy expected. This paper will discuss the physical signs of OI, how this disease is often mistaken in child abuse cases and the nurses’ role in caring for the child with OI. (Ball, Bindler, & Cowen, 2015)
Vitamin intake is a commonly overlooked necessity in basic nutritional health. What most people do not know is that certain vitamin deficiencies can cause many health risks and problems. Many people believe that are getting all the vitamins they need from their diet, however most of the time they are not. One of the most common vitamin deficiencies is the low intake of Vitamin D. There are some vitamins that are produced by the body such as vitamin K; however some of the most important vitamins are not produced by the body. Vitamin D is one of the vitamins that our body needs to function correctly that is not naturally produced by the body. Vitamin D can be consumed through
Osteoporosis is a health ailment which causes bones to become so porous that they can break easily. Osteoporosis literally means 'porous bones'. The bones in our skeleton are made of a thick outer shell and a strong inner mesh filled with collagen [protein], calcium salts and other minerals. The inside looks like honeycomb, with blood vessels and bone marrow in the spaces between bone. Osteoporosis occurs when the holes between bone become bigger, making it fragile and liable to break easily. Osteoporosis usually affects the whole skeleton but it most commonly causes breaks or fractures to bone in the wrist, spine and hip.
The major defect in Osteomalacia is a deficiency of activated vitamin D , which promotes calcium absorption from the gastrointestinal tract and facilitates mineralization of bone.