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Osteogenesis Imperfecta – This is a genetic pathological condition ofbonesin which affected people tend to have pearl which are inadequately formed.1In this condition , the bones lean to get fractured easily .
What Is Osteogenesis Imperfecta?
The meaning of Osteogenesis Imperfecta or Brittle Bone Disease is imperfectly formed bone , which itself explains the meaning of this condition which is the bones in the body are inadequately formed.2This condition is impart on mainly because of a genetic defect which hamper the ability of the body to form strong clappers . Some someone may have a severe form of this condition where they will kick downstairs their bones very easily and may end up receive frequent geological fault . Individuals with meek forms of this disease have few fractures when equate to individual with severe form of Osteogenesis Imperfecta .
How Is Osteogenesis Imperfecta Caused?
Osteogenesis Imperfecta is have due to malfunction of a protein called type - I collagen.3This protein play a major character in geological formation of strong and healthier bones along with organization ofligaments , teeth , and sclerotic coat . Due to a defective cistron , there is not enough production of this protein resulting in formation of fragile and brittle bones , which tends to damp easily . In majority of cases of Osteogenesis Imperfecta , the children inherit this faulty gene from the parent . There have been instance where a child diagnosed with Osteogenesis Imperfecta or Brittle Bone Disease does not have parents with this disease . In such cases , there is spontaneous mutation of the cistron resulting malfunctioning protein .
What Are The Symptoms Of Osteogenesis Imperfecta?
Symptoms Of Osteogenesis Imperfecta Include:
What Are The Types Of Osteogenesis Imperfecta?
Osteogenesis Imperfecta Has Been Classified Into Four Categories:
Osteogenesis Imperfecta Type I : This is the meek manakin of this disease . In this type , the structure of the collagen protein is normal but there is less product of the protein than normal . In this type , there is very minimum bone deformity , although the bones may be fragile and can be easily broken . In this type , the whites of the eye may have a dingy or a purple speck to it .
Osteogenesis Imperfecta Type II : This is the most severe form of the disease . In this eccentric , the collagen protein is not develop appropriately . There may be fractures noticed even in the foetus . The survival rate of many infants with this character of Osteogenesis Imperfecta is very down .
Osteogenesis Imperfecta Type III : This character of Osteogenesis Imperfecta also has unsuitably mould collagen protein and there are severe deformity of the pearl along with other potential complication . Apart from the usual bone disfiguration , there may also be spinal misshapenness , respiratory difficulties , and fragile teeth .
Osteogenesis Imperfecta Type IV : This character of Osteogenesis Imperfecta is moderately severe . In this type also the collagen is formed inadequately . ivory tend to violate easily but in this case the optic are commonly normal .
How Is Osteogenesis Imperfecta Diagnosed?
To diagnose Osteogenesis Imperfecta , the treating physician may bear a detailed history and forcible examination where the physician may discuss about the kin history to look for inheritance of the disease . During physical examination , the physician will look for abnormality in the eyes and also look for brittle teeth .
Apart from a detailed chronicle and physical interrogation , x - rays will be order to look for any disfigurement of the os . Tissue samples may be taken to bet for genetic defect .
Ultrasound can also be done for life-threatening case of Osteogenesis Imperfecta at the time of pregnancy , specially if there is a sept account of this disease .
What Are Treatments For Osteogenesis Imperfecta?
Majority of cases of Osteogenesis Imperfecta is treated nonsurgically with the help of following :
Medication : Bisphosphonate is have to the child . This medication help with fractures and painfulness in the bone . This is given either orally or intravenously .
Immobilization : Immobilization is done by bracing , splinting , or casting so that the bones do not move and get displaced and healing takes place at a faster rate .
utilisation : After healing of the fracture , the physical therapist formulates an exercise plan to increase mobility and decrease risk of next fractures . Low impact exercises like swim or walking fortify the bones and the muscles .
Surgical Treatment For Osteogenesis Imperfecta : Surgical treatment is recommended in cases of the followers :
How To Take Care Of Children Born With Osteogenesis Imperfecta
The following steps may be taken while handling a baby with Osteogenesis Imperfecta or Brittle Bone Disease :
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