Osteogenesis Imperfecta

In: Other Topics

Submitted By Swann1976
Words 4944
Pages 20
Student Examination into the Causes, Treatment, and Prognosis of Osteogenesis Imperfecta
Anitra Swann
Baltimore City Community College
Professor McNair
AH 130
October 18, 2011

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 bone formation.” Individuals who have OI suffer from short stature, scoliosis, thin skin, and hearing loss. Numerous fractures are common, and can occur before birth. This disorder affects six-to-seven per 100 thousand people worldwide. There are seven forms of OI. The types can be distinguished by their signs and symptoms, even…...

Similar Documents


...Broken arm A bone fracture (sometimes abbreviated FRX or Fx, Fx, or #) is a medical condition in which there is a break in the continuity of the bone. A bone fracture can be the result of high force impact or stress, or trivial injury as a result of certain medical conditions that weaken the bones, such as osteoporosis, bone cancer, or osteogenesis imperfecta, where the fracture is then properly termed a pathological fracture. Although broken bone and bone break are common colloquialisms for a bone fracture, break is not a formal orthopedic term. Treatment: The most important aspect of first aid is to stabilize the arm. Do this by using a towel as a sling. Place it under the arm and then around the neck. An alternate approach to keep the arm from moving is to position a rolled and taped newspaper along the swollen area and to tape it in place. Apply ice to the injured area. This can help to decrease pain and swelling. Place ice in a bag and leave it on the arm for 20-30 minutes at a time. It may be helpful to place a towel around the ice bag or in between the bag and the skin to protect the skin from getting too cold. Never put ice directly on the skin. Symptoms: Most broken arms have these symptoms:  A large amount of pain and increased pain when moving the arm  Swelling  Maybe an obvious deformity compared to the other arm  Possible open wound either from the bone puncturing the skin or from the skin being cut during the injury  Decreased......

Words: 772 - Pages: 4


...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......

Words: 328 - Pages: 2

Orthopedic and Musculoskeletal Disorders Iep

...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 includes Types II thru IV. Persons that have severe cases of osteogenesis imperfecta have abnormal amounts of Orthopedic and Musculoskeletal Disorders IEP 3 collagen. The main factor in teeth, sclera (the white part of the eye), ligaments,......

Words: 1661 - Pages: 7

Physical Disabilities

...or look like a scar from the lip up to the nostril. * Causes: 1. Genes inherited from parents 2. Exposure to certain substances during pregnancy * Symptoms: Difficulty swallowing, nasal speaking voice and recurring ear infections. D. Juvenile Arthritis * Disease caused by an autoimmune process resulting in swelling, immobility, and pain in joints. * A chronic and painful muscular condition seen in children E. Limb Deficiencies * Skeletal problems in which the individual’s limb(s) is shortened, absent, or malformed. * They may occur from congenital conditions or from injuries. F. Skeletal Disorder I. Dwarfism * A condition caused by abnormal bone growth II. Osteogenesis Imperfecta * Also known as brittle bone disease * A condition in which normal calcification of the bones does not occur, leading to breakage and abnormal healing of bones with accompanying loss of height. III. Scoliosis * A curvature of the spine that occurs in children during puberty and may, in sever form, limit the mobility of the trunk. Signs and Symptoms 1. Deformity may be observable in fingers, hands, legs, neck or waist. 2. Showing difficulty in sitting, standing and walking. 3. Showing difficulty in picking up and holding objects and putting them on the ground. 4. Frequently complaining of pains in the joints. 5. Experiencing difficulty in holding the pen to write. 6.......

Words: 911 - Pages: 4

One Night with Blue Note

...York City on February 22, 1985. This film brings together some of the jazz legends associated with Blue Note over the years as well as some newly signed artists. The concert introduces more than 30 of the world’s most revered jazz musicians in the form of all-star bands and is considered by many to be one of the most important nights in jazz history. Some of the great jazz musicians we heard were Freddie Hubbard, Jackie McLean, Jimmy Smith, Woody Shaw, Walter Davis Jr., Michel Petrucciani Art Blakey, Stanley Turrentine, Joe Henderson, Grover Washington, Jr., and Tony Williams. My favorite artist in the film was Michel Petrucciani. He is not only a great talented pianist but an inspiration as well. Michel Petrucciani was born with osteogenesis imperfecta which is a genetic disease that causes brittle bones and short stature. He still became one of the most accomplished jazz pianists of his generation, despite having arms which caused him pain. I believe that he teaches us that anything is possible with hard work and dedication no matter how hard things may seem. Although I am not a big music fan, I feel this concert was worthwhile watching as well as listening too. At the end I am glad I watched this film because it allowed me to be more open minded to music and the different styles and forms. These people and countless more, and innumerable more influences on the music scene that it is owed gratitude that jazz has become what it is and that it has survived so long....

Words: 289 - Pages: 2


...IMPLANT DENTISTRY / VOLUME 20, NUMBER 5 2011 331 Identification and Treatment of Bisphosphonate-Associated Actinomycotic Osteonecrosis of the Jaws Cameron Y. S. Lee, DMD, MD, PHD,* Francis D. Pien, MD, MPH,† and Jon B. Suzuki, DDS, PHD, MBA‡ isphosphonates (BPs) are a pharmacologic class of synthetic analogs of inorganic pyrophosphate that has an affinity for calcium.1 They are used in the treatment of various malignant and benign metabolic conditions, such as hypercalcemia of malignancy; Paget’s disease of bone; multiple myeloma; and metastases from distant sites such as breast, thyroid, prostate glands, and lung. The oral form of BPs is indicated in the management of osteoporosis, fibrous dysplasia, and most recently, osteogenesis imperfecta in the pediatric population.2,3 Currently, there are 5 bisphosphonates in clinical use: alendronate (Fosamax; Merck, Whitehouse Station, NJ), risedronate (Actonel; Proctor & Gamble Pharmaceuticals, Cincinnati, OH), ibandronate (Boniva; Roche Pharmaceuticals, Nutley, NY), zoledronate (Zometa; Novartis Pharmaceuticals, East Hanover, NJ), and pamidronate (Aredia; Novartis Pharmaceuticals). All 5 medications differ in their binding affinity to bone, potency, and duration.2–5 B Osteonecrosis of the jaws (ONJ) is a condition characterized by necrotic exposed bone in the jaws of patients receiving intravenous or oral bisphosphonate therapy. A review of the medical and dental literature reveals that the pathoetiology of ONJ......

Words: 5024 - Pages: 21


...b Level: 1 For questions 65 to 69 match the following disorders of bones with the proper description. A) bone inflammation that often results from bacterial infection B) a disease in adults, especially women, characterized by a reduced amount of bone matrix C) a disease in adults characterized by softening of bones resulting from calcium depletion D) a disease in children characterized by soft, bowed, and swollen bones E) a group of genetic disorders producing very brittle bones that are easily fractured, occurs because of insufficient collagen development 65. osteomyelitis Answer: a Level: 1 66. osteomalacia Answer: c Level: 1 67. osteoporosis Answer: b Level: 1 68. rickets Answer: d Level: 1 69. osteogenesis imperfecta Answer: e Level: 1 For questions 70 to 74 match the following terms with the appropriate definition or description. A) small channels extending through the bone matrix B) interconnecting rods of bone C) thin sheets of bone matrix D) covering of the outer surface of bone E) spaces in the bone matrix that are occupied by osteocytes 70. lamellae Answer: c Level: 1 71. lacunae Answer: e Level: 1 72. canaliculi Answer: a Level: 1 73. periosteum Answer: d Level: 1 74. trabeculae Answer: b Level: 1 For questions 75 to 79 match the following terms with the appropriate definition or description A) membrane that lines the medullary cavity B) area where marrow is located C) site of longitudinal......

Words: 3619 - Pages: 15

Complications of Fractures

...bone contact ▪ impaired blood supply resulting in avascular necrosis. • In nonunion, fibrocartilage or fibrous tissue exists between the bone fragments; no bone salts have been deposited. • A false joint (pseudarthrosis) often develops at the site of the fracture. • Nonunion • most commonly occur with fractures of the middle third of the humerus, the lower third of the tibia, and, in elderly people, the neck of the femur. • Medical Management • internal fixation • bone grafting • electrical bone stimulation. • Internal fixation stabilizes the bone fragments and ensures bone contact. • Bone grafts provide for osteogenesis, osteoconduction, or osteoinduction. • Osteogenesis (bone formation) occurs after transplantation of bone containing osteoblasts. • Osteoconduction is provision by the graft of the structural matrix for ingrowth of blood vessels and osteoblasts. • Osteoinduction is the stimulation of host stem cells to differentiate into osteoblasts by several growth factors, including bone morphogenic proteins. • Bone transplants undergo creeping substitution, a reconstructive process in which the bone transplant is gradually replaced by new bone. • During surgery the bone fragments are trimmed, infection (if present) is removed, and a bone graft is placed in the bony defect. • The bone graft may be an autograft (tissue harvested from......

Words: 1131 - Pages: 5

Maternal Stress Effects

...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......

Words: 296 - Pages: 2


...C Dietary calcium Normal levels of growth hormones, thyroid hormones, sex hormones, parathyroid hormone, calcitonin, and calcitriol Osteoclasts removing bone mass Osteoblasts adding to bone mass Marfan's syndrome Cancer Increased osteoclast activity Factors Affecting Bone Mass Hormonal disorders Gigantism Acromegaly Vitamin deficiencies Osteomalacia Rickets (vitamin D) Scurvy (vitamin C) Decreased osteoblast activity Stimulation by osteoclast activating factor Inherited conditions Total bone mass in skeleton Normal range maintained by Figure A-16 Ectopic bone formation Bone mass increases (Hyperostosis) Bone mass decreases (Osteopenia) Inactivity Bed rest, paralysis, immobility, weightlessness Inherited conditions Osteogenesis imperfecta Achondroplasia Hormonal disorders Pituitary dwarfism Osteoporosis in postmenopausal women and elderly men Skeletal.eap3am 8/20/02 1:20 PM Page 51 The Skeletal System 4. Rates of calcium and phosphate absorption and excretion: For bone mass to remain constant, the rate of calcium and phosphate excretion, primarily at the kidneys, must be balanced by the rate of calcium and phosphate absorption at the digestive tract. Kidney failure or dietary calcium deficiencies or problems at the digestive tract affecting calcium and phosphate absorption will have a direct effect on the skeletal system. 5. Genetic and environmental factors: Genetic or environmental factors may affect the structure of bone or the remodeling process. There......

Words: 6301 - Pages: 26


...gametes can be produced by an individual with the genotype AABbCCddEeFf? 15) 16) Albinism, lack of pigmentation in humans, results from an autosomal recessive gene (a). Two parents with normal pigmentation have an albino child. 16) (a) What is the probability that their next child will be albino? (b) What is the probability that their next child will be an albino girl? (c) What is the probability that their next three children will be albino? 17) Dentinogenesis imperfecta is a rare, autosomal, dominantly inherited disease of the teeth that occurs in about one in 8000 people The teeth are somewhat brown in color, and the crowns wear down rapidly. Assume that a male with dentinogenesis imperfecta and no family history of the disease marries a woman with normal teeth. What is the probability that (a) their first child will have dentinogenesis imperfecta? (b) their first two children will have dentinogenesis imperfecta? (c) their first child will be a girl with dentinogenesis imperfecta? 3 17) 18) A certain type of congenital deafness in humans is caused by a rare autosomal (not X-linked) dominant gene. 18) (a) In a mating involving a deaf man and a deaf woman (both heterozygous), would you expect all the children to be deaf? Explain your answer. (b) In a mating involving a deaf man and a deaf woman (both heterozygous), could all the children have normal hearing? Explain your answer. (c) Another form of deafness is caused by a rare......

Words: 3244 - Pages: 13

Public Healt and Law

...Symptoms A person in shock has extremely low blood pressure. Depending on the specific cause and type of shock, symptoms will include one or more of the following: * Anxiety or agitation/restlessness * Bluish lips and fingernails * Chest pain * Confusion * Dizziness, lightheadedness, or faintness * Pale, cool, clammy skin d. Explain bone fractures A fracture, also referred to as a bone fracture, FRX, FX, Fx or # is a medical condition where the continuity of the bone is broken. A significant percentage of bone fractures occur because of high force impact or stress, however, a fracture may also be the result of some medical conditions which weaken the bones, for example osteoporosis, some cancers or osteogenesis imperfecta. A fracture caused by a medical condition is known as a pathological fracture.  A crack (not only a break) in the bone is also known as a fracture. Fractures can occur in any bone in the body. There are several different ways in which a bone can fracture; for example a clean break to the bone that does not damage surrounding tissue or tear through the skin is known as a closed fracture or a simple fracture. Most human bones are surprisingly strong and can generally stand up to fairly strong impacts or forces. However, if that force is too powerful, or there is something wrong with the bone, it can fracture.  Some different types of fracture: * Avulsion fracture - a muscle or ligament pulls on the bone, fracturing......

Words: 4459 - Pages: 18

Musculoskeletal and Aging

...vital functions in our body systems. Too many withdrawals can deteriorate the bone, and that’s why the maintenance of constant level of calcium in the blood as well as adequate supply of phosphorus and calcium in cells is critical for the function of all body organs. Genetic issues can produce thin weak bones, or ones that are thick, and the outcome of nutritional deficiencies can result in under mineralized and fragile bone. As I have mentioned earlier bones are a part of the musculoskeletal system, they do not work in isolation, but rather in conjunction with the muscles, they are the lever that allows the muscles to move. Thus muscle activity is important for the normal function of the bone. Afar from genetic abnormalities “Osteogenesis imperfecta” that can produce weak and thin bones, we have to agree that many of the changes associated with aging are lifestyle related and not “normal” could bring the onset of Osteoporosis: a disease characterized by too little bone formation, and excessive bone loss, or the combination of both, which can be crippling, this condition puts people of risk of fractures, and tends to affect more women than men.-one of every 2 women and 1 in every 4 men older than 50 years of age will have osteoporosis in their life. Because bone loss occurs without symptoms it is sometimes considered a silent disease. Osteoarthritis or sometimes called degenerative joint disease, (the surface layer of the cartilage breaks and wears off) which affects......

Words: 456 - Pages: 2

Genoma Humano

...parecía una disciplina muy interesante, poder manipular la vida antes de concebirla, eso me parecía genial. Un mundo sin enfermedades o con gustos cumplidos (rasgos físicos, sexo en los hijos, etc) ya después me fui por otro camino. Pero regresando al tema de ensayo, creo que aun sigo con la misma idea, un mundo sin enfermedades. En eso encaminaría mi investigación, probable la enfermedad que elegiría seria una que deteriore la calidad de vida en la etapa temprana, de la niñez. Aunque con dicho estudio genético y la aplicación del mismo, se podría erradicar, estoy pensando rápidamente en algún tipo de enfermedad que tenga que ver con la motricidad, con el no valerse por si mismo. Probablemente escogería estudiar Espina bifica, osteogenesis imperfecta, una de estas dos que su origen es en la gestación del producto y que una vez producida no hay vuelta atrás. Malformaciones Congenitas Espina bífida El sistema nervioso humano se desarrolla de una placa de células pequeña y especializada a lo largo de la espalda del embrión. Al comienzo del desarrollo, los bordes de esta placa comienzan a enroscarse y acercarse entre sí, creando el tubo neural, un tubo estrecho que se cierra para formar el cerebro y la médula espinal del embrión. A medida que progresa el desarrollo, la parte superior del tubo se convierte en el cerebro y el resto se convierte en la médula espinal. Este proceso generalmente se completa en el día 28 del embarazo. Pero si ocurrieran problemas durante este......

Words: 3156 - Pages: 13

Art Timeline

...put on detail and texture. Filiger’s interpretation through color and brush stroke reflects the savage nature of the coast the way he felt and experienced it, rather than it looked in a realistic fashion. [pic] Fig. 7 1894 In the Salon of the Rue des Moulins Henri de Toulouse-Lautrec Oil on canvas Musée Toulouse-Lautrec, Albi In the Salon of the Rue des Moulins by Henri de Toulouse-Lautrec paints a beautiful picture representing an extension of Impressionism and rejecting its limitations simultaneously as dictated by the Post-Impressionism movement. Born of a wealthy family, Toulouse-Lautrec had physical deformities, evidence today indicates he probably suffered from brittle bone disease (osteogenesis imperfecta), which made him choose to make his life among the nightclubs and brothels of Paris (Olga's Gallery - Online Art Museum, 2010). Toulouse-Lautrec often painted prostitutes instead of professional models. In the Salon of the Rue des Moulins depicts bored prostitutes sitting on velvet sofas at a brothel which Toulouse Lautrec actually resided in for a while. He captures the women as they were, like a photograph, but does not glorify them or pass judgment on them. Toulouse-Lautrec captures the feeling and emotion of this environment through his application of large flat colored areas combined with short brush strokes indicating form, detail, depth, and perspective. His dark outline around the women and objects in the room adds a......

Words: 3515 - Pages: 15

Saab 900s Cabrio . Full Leather, Electric Hood, Exceptionally Clean and Straight | Chios School Road (12) | 1x871 Acacias 38