INTRODUCTION gene that leads to autosomal dominant OI. There’s

INTRODUCTION                        OsteogenesisImperfecta (OI) is a genetic tissue disorder that could affect both male andfemale with different ages equally.

It could be found in all ethnic groups indifferent tribes that races in different places. OI means imperfect boneformation. It is heritable disorder that may affect the formation of the bonethat lead to low bones mass.                        OIis a rare clinical disorder, occurring at a rate of between 1/10,000 and1/25,000 worldwide. Lack of a good understanding of difficulties in thediagnosis, optimal treatment, and recent progress about the disorder in theworld related to health concern this could potentially result in problems forphysicians, such as missed diagnosis, diagnostic error, or litigation (Zhao X,Yan SG 2011). PATHOPHYSIOLOGY                        OIis a heredity disorder caused by collagen deformity and mostly of the reason isthat caused by mutations of the human genes cording the chain of the collagentype I gene that leads to autosomal dominant OI. There’s a lot of rare forms ofOI due to the deformity of protein involved in cross-linking, hydroxylation,and mineralization of type I collagen (Joseph L S, Carolyne A, Jessica F,Gerald H 2015).                        Themajor effect of this is the manifestation is skeletal fragility.

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The Skeletaldeformity, joint laxity, and sclerosis may be present. The other extra skeletalmanifestations include hearing loss, dentinogenesis imperfecta, blue/graysclera, advancing deafness, beading of the ribs, hypercalciuria, aortic rootdilatation, vascular, pulmonary complications and neurologic conditions such asmacrocephaly, hydrocephalus, and basilar invagination (Biggin A, Munns CF 2014).The phenotype is variable, ranging from osteoporosis that may present inadulthood to lethality in children. Even the adults with “mild” OI may havesignificant musculoskeletal symptoms, including arthritis, fractures, backpain, scoliosis, and tendon ruptures (McKiernan FE 2005). There’s a differentclassification in OI base on the clinical signs according to David Sillence in(1979). There are four (4) types of disease the type I to type IV and the mostcommon of this type is the type I ranging from 85%-90% cases caused by thistype because of the dominant mutation of the collagen type I.

This fourclassification has been use until now and there’s four new recently added thetype V to VIII (Starr SR, Roberts TT, Fischer PR 2010).                        OsteogenesisImperfecta (OI) also affects the health concern diseases of the patient becauseof that the patient having OI disease need to maintain the good healthotherwise the other internal organ will be affected that could lead to minor ormajor health problems. These problems include lung problems, cardiac problems,Neurological problems, Abnormal blood coagulation, Thalassemia, Periodontitis,Gastric function, Kidney stones, Basilar impression (BI), Hearing,Vision(connective tissue problem), Delayed would healing, Bone mass and bonedeformity.CLINICALMANIFESTATION           The patient that have OI disordermay suffer in early-onset hearing loss and may suffer in early-onset of hearingloss and it may depend on the type of OI patient has, hearing loss may vary.(Pillion, Vernick, & Shapiro, 2011, p.

2).                        Mostof the cases that having OI suffering a back pain, and some other cases inmedical history have a single ankle fracture during childhood and followed byright shoulder fracture during young adulthood. Some other cases comprised asevere fracture in the ankle, right wrist and both shoulder joints.                        There’sa lot of the types of symptoms in OI it could be mild to severe. Each of thepatients may have different symptoms but all of the OI patients having weakerbones and the common symptoms are; Short stature, Triangular shape of the face,breathing problems, brittle teeth, hearing loss, and bone deformation (Lucie S,Ivan M 2011).

It is often possible to diagnose OI based on symptoms present andclinical features may perform. The clinical geneticists can be performbiochemical (collagen) or molecular (DNA) tests that could to help confirm adiagnosis of OI in some situations. These kinds of tests generally requireseveral weeks before results comes (National institute of health 2012).

 MEDICALMANAGEMENT                        Themost important in managing OI and to stay healthy is to have a goodrelationship with the doctor and medical specialists. The medical doctorincludes orthopedic, endocrinologist, pulmonologist, neurologist, surgeon,radiologist and nutritionist. But the fact is until now there’s no cure for OIonly treatment. The treatment aim’s only to prevent or control the symptoms,maximizing independent mobility, and developing optimal bone mass and themuscle strength. The physical therapy, surgery and dental procedures may oftenrecommended for patient that having OI.

The patient may use medical aid such aswheel chairs and braces for teeth and other mobility aids (National instituteof health 2012). The current knowledge of OI treatment are; Physical therapy,Surgical treatment, Pharmacologic therapy, Bisphosphonates, Neridronate,Estrogen, Growth hormone (GH), Teriparatide, Denosumab, Cell-based therapy,Gene therapy and the Stem cell transplantation.Conclusion            OsteogenesisImperfecta is a heterogeneous disorder with a wide study specifically in clinicalcharacters and a large genetic diversity. In the years pass there’s a lot ofnew genetic causes have been identified like the processing of type I collagen.

In this study it gives systematic overview and some cases of OstegenesisImperfecta that vary in different places both male and female with differentages.