Analysis Of Osteogenesis Imperfecta ( Oi ) Is A Genetic Disorder That Involves Defective Development Of The Connective Tissue

1039 WordsNov 10, 20165 Pages
Osteogenesis Imperfecta (OI) is a genetic disorder that involves defective development of the connective tissue. The collagen production found in bones and other tissue is affected by a gene mutation. It is also known as “brittle bone disease.” Osteogenesis Imperfecta is inherited as an autosomal-dominant trait. It is characterized by abnormally brittle and fragile bones that are easily fractured by the least amount of trauma. OI affects both boys and girls the same and one out of 10,000 live births have been confirmed with the disease. There are four types of IO, they are type I, type II, type III and type IV. With type 1 being more common in infancy with a normal life expectancy expected. This paper will discuss the physical signs of OI, how this disease is often mistaken in child abuse cases and the nurses’ role in caring for the child with OI. (Ball, Bindler, & Cowen, 2015) The physical signs of osteogenesis imperfecta type I include complaints of muscle weakness, loose joints and a scoliosis or curvature of the spine. Blue Sclera, when the outer coating of the eye that should be white appears blue, is a tell-tale sign of having osteogenesis imperfecta. There is also a chance of loss of hearing that is usually manifested in young adulthood and sometimes present in early childhood. Tooth dentin is weakened, so early assessment of teeth with a dentist is beneficial. Type II OI involves the skeleton and most will die in utero. Type III OI is when kyphoscoliosis
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