Osteogenisis Imperfecta

Osteogenisis imperfecta (OI) is a r ar transmittable inconvenience oneself of collagen synthesis associated with broad spectrum of musculoskeletal problems, most notably bowing and fractures of the extremities, muscle weakness, ligamentous laxity, and spinal deformities.(Binder, 386). Other collagen-containing extraskeletal tissues, such as the sclerae, the teeth, and the heart valves are similarly stirred to a variable degree. OI has a common feature of bony frangibility associated with defective physical composition of collagen by osteoblasts and fibroblasts. (Smith, 1983, 13) This disease, involving defective development of the connective tissues, is comm alone the result of the autosomal dominant gene, save stooge also be the result of the autosomal recessive gene. Spontaneous mutations are common and the clinical presentation of the disease remains to be quite broad. (Binder, 386)OI is most commonly referred to as brittle finger cymbals, hardly other names embarrass fragilitas ossium, hypolasia of the mesenchyme, and osteopsathyrosis. Osteogenisis imperfecta is still not dispatchly understood, and while on that point view been advances in diagnosing the disease, word is still limited.Osteogenisis imperfecta is the result of mutations in the genes for type I collagen.In the mild dominantly inherited form of OI (type I), a non- operate onal anyele for the alpha 1 (I) chain halves collagen synthesis, (Smith, 1995, 169) and is largely responsible for the inheritance. Single base mutations in the codon for glycine causes lethal (type II) OI by wrecking the formation of the collagen triple helix. casings triad and IV are the less dram- atic outcomes of similar glycine mutations in every the alpha 1 (I) or the alpha 2(I) chains.(Smith, 1995, 169)The clinical signs sewer be caused from defective osteoblastic activity and defective mesenchymal collagen (embryonic connective tissue) and its derivatives, such as sclera, bones, and ligaments. The reticulum fails to differentiate into mature collagen or the collagen develops abnormally. This causes immature and coarse bone formation and thinning. (Loeb, 755)The signs and symptoms of OI vary greatly depending on the type. The most commonly used sort is the Sillence (type I to IV) typeface I is the mildest form of OI and is inherited as an autosomal dominant trait. The sclerae(middle coat of eyeball) is distinctly blue. Type I is broken low into IA and IB the difference being whether dentinogenesis is present. IA has a life expectancy nearly the alike as the general public. The physical activity is limited, and may push through to stick no dis qualification at all. The bones gift a mottle or wormian get onance, forming small islands. (Isselbacher, 2111)Type II is lethal in utero or shortly there afterbirth. The survivors live from just a few hours to several(prenominal) months. The kayotypes of parents are usually normal. This type is broken down into three sub asse mblys IIA is characterized by a broad, crumpled femora and continuos blackguard beading, IIB by minimal to no rib fractures, and IIC by a thin femora and ribs with ex disco biscuitsive fracturing.While in the uterus, there is poor fetal run shortment, low fetal weight, poor ossification of the fetal skeleton, hypoplastic lungs, the long bones of the upper and swallow limbs are shortened or deformed, and the head is soft. Intrauterine fractures occur, and parinatal death is usually from intracranial hemorrhage collect to vessel fragility or respiratory distress from pulmonic hypoplasia. The bones and other tissues are extremely fragile, and massive injuries occur in utero or delivery. The ribs appear beaded or broken and the long bones crumpled. (Isselbacher, 2111)Type triplet and IV are intermediate in severity amongst types I and II. Type III differs from I in its great severity, and from IV in that it increases in severity with age. It can be inherited as either a autosoma l recessive or dominant trait. The sclerae is only s ricketyly bluish in infancy and white in adulthood, although the intermediate life expectancy is 25 years. Type IV is always dominant. With types III and IV multiple fractures from minor physical stress occurs leading to cash advanceive and severe deformities. Kyphoscoliosis may cause respiratory impairment and predisposition to pulmonary infections. Popcorn-like deposits of mineral appear on the ends of long bones. (Isselbacher, 2111)The symptoms of OI tarde (types I, III and IV) can appear when the pip-squeak begins to walk, and lessens with age. The tendency to fracture decreases and often disappears after puberty. Later in life, particularly during pregnancy and after menopause, more fractures occur. The bones are usually slender with short, thin cortices and trabeculae (fibers of framework), barely can also be outstandingly thin. (Smith, 1983, 136) Narrow diaphysis of the long bones contri unlesses to the fractures and bowing deformities. Scoliosis is common. The haversian cells are poorly(predicate) developed. The bones lack minerals need to form bone matrix. Epiphyseal fractures (end of the bone) results in deformities and stunted growth (dwarfism). Osteopenia, the decrease in bone mass, is symptomatic.Other signs of OI admit hyperextensibility of the phrases double-jointedness and abnormally thin, translucent skin. Discolored (blue-gray or yellow-brown) and malformed teeth which break slowly and are cavity prone are found in patients Patients with OI have a triangular-shaped head and face, a bilaterally bulging skull, and prominent eyeball with a wide distance between the temporal region. (Loeb, 755)Hearing departure by the age of 30-40 is the result of the pressure on the auditory brass section because of the deformity of its canal in the skull, and the development of otosclerosis. Recurrent epistaxis (nosebleeds), bruise and edema (especially at the sight of fractures), difficulty to lerating advanced temperatures and mild hyperpyrexia are other symptoms. Thoracic deformities may impair chest expansion and the ability to effectively breath deeply and cough. (Loeb, 755) Patients are also more suasible to infection.In assessing a patient data is needed around the genetic history and birth of the barbarian, as well as a complete development assessment from birth. Vital signs are taken, and periods of increased heart and respiratory rate and elevated body temperature are note-worthy. Skin should be attemptd for color, elasticity, translucency, and signs of edema and bruising. A description of position and appearance of a childs trunk and extremities and facial characteristics should be noted. The height of the child in impairment of expected growth, signs of scoliosis or laxity of ligaments, and range of motion of the joints are all important. Sight and hearing should be tested since there are stunning problems associated with OI. The appearance of the scler ae and tympanic membranes and defects of primary teeth and gums are important. (Jackson, 1699)X-rays usually let loose a decrease in bone density. There is no consensus, however, as to whether the diagnosis can be made by microscopy of bone specimens. (Isselbacher, 2112) deoxyribonucleic acid sequencing and incubating skin fiboblasts are two ways foster diagnose OI.antepartum ultrasonography is used to detect severely affected fetuses at about 16 weeks of pregnancy. Diagnosis of the lethal type II by echography during the second trimester of pregnancy is by the identification of fractures of the long bones. Compression of the fetal head is seen by ultrasound probe, and low echogeneity of the cranium can be signs of skeletal dysplasia (faulty development of the tissues). Diagnosis is confirmed by postmortem interrogative including radiography and biochemical studies of cultivated fibroblasts from the fetus. (Berge, 321) Diagnosis by analyzing DNA sequencing can be carried out in chronic villa biopsies at 8-12 weeks.There is no known treatment of OI at this time. Treatment therefore is predominantly supporting and educational. Because of multiple fractures and bruising, it is important to diagnose this disease in order to retain accusations of child abuse.Treatment of fractures is often challenging because of abnormal bone complex body part and laxity of the ligaments. Splinting devices are used to stabilize the bones and to protect against additive fractures. Treatment aims to prevent deformities through use of traction and/or immobilization in order to aid in normal development and rehabilitation. ramification deformities and repeated fractures can be corrected by intramedullary rods telescopingrods that elongate with growth. aft(prenominal) surgical placement of the rods, extensive post- operative charge is required because greater amounts of blood and fluid are lost. (Loeb, 755) It should be noted that the healing of fractures appear to be normal . (Isselbacher, 2112) Braces, immobilizing devices and wheelchairs are necessary.Physical therapy is important in the treatment of OI. Bone fracture density in unfractured bone is decreased when compared with age-matched controls referable to limited exercise, so it is essential to stay as active as possible. Physical therapy is also used for strengthening muscle and preventing disuse fractures with exercises with light resistance, such as swimming.Regular dental visits are necessary to monitoring device the teeth. Monitoring by opthalmol-ogists for vision and audiologits for hearing is also essential. Radiologists need to examine the structure and density of the bones, and an orthopedist is needed to set fractures and take care of other bone related problems.Counseling and emotional support is needed for both the patient and the family. It is important not to limit a child because of his/her disabilities, and to realize that many victims of this disease live sure-fire lives. Deb rah Morris, a successful business woman, and active fighter for disability rights and helping other patients of OI, says, If I had the choice to be anyone in the world, I would be exactly who I am. The people I have met, the challenges I have faced, the opportunities that I have been presented all are directly related to dealing with being a little person with brittle bones. (Kasper, 53) Many of the symptoms of OI can be impoverished with those of a battered child.X-rays are used to show evidence of sr. fractures and bone deformities to distinguish the difference. The Osteogenesis Imperfecta Foundation (OIF) has is a national support group that offers assistance to families in this position and to increase public awareness. The OIF has a medical exam advisory council, chapters, support groups, regional meetings, biennial national conferences, and parent contacts to help families feeling alone and helpless. They also publish a newsletter, provide literary works and videos about OI, and sponsors a fund to support research.Magnesium oxide can be administered to decrease the fracture rate, as well as hyperpyrexia and constipation associated with this condition. (Anderson, 1127) A high-protein, high-carbohydrate, high-vitamin diet is needed to promote healing. A growth hormone has also been administered during childhood, and is shown to substantially increase growth. Treatment with bisphosphorates and related agents has been discussed to decrease bone loss, but no controlled studies have been done. (Isselbacher, 2113)Since there is no cure for oseogenesis imperfecta, appropriate and right on timed rehabilitation intervention is of the utmost importance to ensure that the child is able to function to the best of his/her ability in society. A ten year study that was submitted in 1992 proves this.25 of 115 children with severe OI were ascertained since birth or infancy at the National Institutes of Health, MD and the penurious Dysplasia Clinic at the Childrens National Medical Center in D.C. hotshot was Type I, two Type II, nine Type III, and thirteen Type IV. They were classified by physical characteristics and functional capacity host A consisted of those who were severely dwarfed with large heads and marked bowing , contractures, and weakness of extremities. The highest functional readiness expected was breakaway sitting. conference B was growth deficient, but with a normal sized head. Femoral bowing, scoliosis, and contractures of the hip flexors were characteristics. they were expected to stand and/or ambulate with braces. Group C were less growth deficient, and had good strength, but poor endurance. They had marked joint laxity and poorly aligned lower extremity joints, but were ambulators. (Binder, 386-387)Group A patients were the most severely involved. more or less were basically sitters. The majority were totally dependent in their self care. Group B had the potential to become at least short-distance ambulators. These pat ients had acquired the ability to move to sitting, but had transitional moving problems, such as sitting to standing. both were part-ially independent in their self care. Group C had antigravity strength and 50% had good strength in their extremities. all in all were physically active and age-appropriately independent, but none were good long-distance walkers. (Binder, 387-388)Progressive rehabilitation of these groups all include posture exercises and active range of motion and strengthing exercises. Group B had supererogatory ROM and posture exercises, as well as Developmental exercises. Group C added coordination activities.Conclusion, Management of patients with OI should address the childs functional needs. thus far though the degree of disability may be severe, management should not be limited to orthopedic procedures and bracing. Treatment planning should be considered, but not totally based on genetic, anatomical, and biochemical abnormalities. Our experi-ence suggests t hat clinical pigeonholing based in part on functional potential can be useful in the appropriate management of children with OI.(Binder, 390) Independence was stress in this study, and even patients with limited sitting ability, upper extremity function can be better to at least minimal independency in self-help skills. Potential ambulators should be helped because, although their ability might not progress past indoor ambulation, walking will make them more independent and may result in increased bone mineralization.Poor joint alignment, poor balance, and low endurance can all be improved with persistent, individualized physical and occupational therapy. For best results, therapy should be started as in short after birth as possible. Mainstreaming school aged children is also important. All of this together leads to age-appropriate social development and markedly improved independence and whole step of life in the majority of patients.(Binder, 390)Osteogenesis imperfecta is the most common genetic disorder of the bone. It occurs in about 1 in 20,000 live births, and is equally prevailing in all races and both sexes. The Type I OI has a commonwealth frequency of about 1 in 30,000. Type II has a birth incidence of about 1 in 60,000. Types III and IV are less common and may be as high as 1 in 20,000. (Isselbacher, 2111) The occurrence of OI in families with no history or blue sclerae is about 1 in 3,000,000 births.(Smith, 1995, 171) The recurrence risks in families is estimated to be 6 to 10%, but is only estimated because most couples take in not to have any more children. 15 to 20% of patients with OI do not carry the gene for abnormal collagen, making many venerate if there is yet another genetic problem undiagnosed at this time.(Smith, 1995, 172)