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Osteogenisis Imperfecta (OI)-

 


             age. It can be inherited as either a autosomal recessive or .
             dominant trait. The sclerae is only slightly bluish in .
             infancy and white in adulthood, although the average life .
             expectancy is 25 years. Type IV is always dominant. With .
             types III and IV multiple fractures from minor physical .
             stress occurs leading to progressive 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 child 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), but can also be unusually thin. .
             (Smith, 1983, 136) Narrow diaphysis of the long bones .
             contributes to the fractures and bowing deformities. .
             Scoliosis is common. The haversian cells are poorly .
             developed. The bones lack minerals needed 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 include hyperextensibility of the .
             joints -- double-jointedness-- and abnormally thin, .
             translucent skin. Discolored (blue-gray or yellow-brown) and .
             malformed teeth which break easily and are cavity prone are .
             found in patients Patients with OI have a triangular-shaped .
             head and face, a bilaterally bulging skull, and prominent .
             eyes with a wide distance between the temporal region. .
             (Loeb, 755).
             Hearing loss by the age of 30-40 is the result of .
             the pressure on the auditory nerve because of the deformity .
             of its canal in the skull, and the development of .
             otosclerosis. Recurrent epistaxis (nosebleeds), bruising .


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