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What is Atelosteogenesis ?
Atelosteogenesis is a disease which feign modest children and infant in mutual . This disease usually affects the development of bones in the body of children . Atelosteogenesis is further bifurcated into three types : Atelosteogenesis type I , Atelosteogenesis type II and Atelosteogenesis case III . All of these diseases affect the bones of the children and can also have an effect throughout the body .
Types of Atelosteogenesis
Causes of Atelosteogenesis
Mutations of the FLNB cistron are responsible for causing atelosteogenesis Type I and III1,3,4 . This gene grant instructions for the organization of filamin B which help to develop a internet of protein filaments that allows cells to change configuration and body structure and move . Filamin B is very of import for the growing of the skeletal system before giving birth . Mutations of the FLNB gene restrict the working of filamin B. Atelosteogenesis Type II is a pinched disorder that is caused due to the mutant of the SLC26A2 gene2 . These gene give instructions to the protein which are crucial for the development of cartilage . variation in these genes hinder the carrying into action of the protein leading to underdevelopment of bones which afterwards results in skeletal problem .
Epidemiology of Atelosteogenesis
Atelosteogenesis is consider to be a very rarefied disorder wherein only a few people have been report with this disease . Only a twelve people till date are known to be affected by Atelosteogenesis Type I1 . While , the incidence of atelosteogenesis type II is still unknown2 . Atelosteogenesis Type III is bang to have affected closely two dozen people by now3 . The babe are mostly still digest . Even if they are live born , the infants do not come through for long considering the staring event the disorder has on them .
Inheritance of Atelosteogenesis
Atelosteogenesis of all types is consider to be an autosomal predominant pattern inheritance from parents which mean that only one brace of the affected cistron is enough to cause the disease in the tiddler .
Symptoms of Atelosteogenesis
Diagnosis of Atelosteogenesis
This disease can be diagnosed easily as their symptom are visible at the parturition of the tyke . If even a few symptoms are witnessed , the disease can be confirmed by a doctor .
Treatment of Atelosteogenesis
The intervention of Atelosteogenesis is not possible . One can not completely cure the affected soul but can get treatments and surgeries done in parliamentary law to avoid certain side burden and symptom of the disease . diagnostic management can be done with regard to the consort problems induce by Atelosteogenesis .
Conclusion
Atelosteogenesis is a rare transmissible disorder which is inherit by the nipper through his/ her parents in an autosomal dominant recessive style . It is further sort into three case each of one touch the castanets throughout the body . The symptoms of this disease vary widely in different types where Type 1 include shorten finger’s breadth and toe , elbow dislocation , 11 pairs of ribs , and so on1 . case 2 includes a rounded abdomen , thin chest , shortened bones of manus and legs and cleft lip2 . Type 3 includes abnormalities in the pearl of knees , hip and elbows , widened centre and broad forehead3,4 . Till day of the month , there is no handling or cure for Atelosteogenesis and symptomatic direction is the only way to deal with it .
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