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Osteogenisis Imperfecta (OI)-

 

The reticulum fails to .
             differentiate into mature collagen or the collagen develops .
             abnormally. This causes immature and coarse bone formation .
             and thinning. (Loeb, 755).
             SIGNS AND SYMPTOMS.
             The signs and symptoms of OI vary greatly depending .
             on the type. The most commonly used classification is the .
             Sillence (type I to IV):.
             Type 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 down into IA .
             and IB -- the difference being whether dentinogenesis is .
             present. IA has a life expectancy nearly the same as the .
             general public. The physical activity is limited, and may .
             appear to have no disability at all. The bones have a .
             mottled or wormian appearance, 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 months. The kayotypes of parents are usually normal. .
             This type is broken down into three subgroups: IIA is .
             characterized by a broad, crumpled femora and continuos rib .
             beading, IIB by minimal to no rib fractures, and IIC by a .
             thin femora and ribs with extensive fracturing. While in .
             the uterus, there is poor fetal movement, low fetal weight, .
             poor ossification of the fetal skeleton, hypoplastic lungs, .
             the long bones of the upper and lower limbs are shortened or .
             deformed, and the head is soft. Intrauterine fractures .
             occur, and parinatal death is usually from intracranial .
             hemorrhage due to vessel fragility or respiratory distress .
             from pulmonary 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 III and IV are intermediate in severity between .
             types I and II. Type III differs from I in its greater .
             severity, and from IV in that it increases in severity with .


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