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Williams Syndrome - Genetic Pediatric Illness - Research Paper Example

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This paper under the title "Williams Syndrome - Genetic Pediatric Illness" investigates the issues of the pediatric illness that was first observed in New Zealand by the reclusive Dr J.C.P. Williams while working as a Registrar at Auckland's Greenlane Hospital in 1961.  …
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Williams Syndrome - Genetic Pediatric Illness
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"Williams Syndrome - Genetic Pediatric Illness"

Download file to see previous pages  After some time, A.J. Beuren came across his own set of 11 patients who also had the same symptoms as described by Dr Williams in the past. Thanks to his contribution to the study of what was then an unknown illness, the disease was named after the two men who contributed the most its understanding, Williams-Beuren Syndrome. However, the illness has also come to be known by other illnesses over the years. Physiopedia (2011) lists the other names as follows:
Dr. Aneal Khan M.D., who authored an article regarding Williams Syndrome for Medscape Reference (2011) described the clinical manifestation of the illness to include; “a distinct facial appearance, cardiovascular anomalies that may be present at birth or may develop later in life, idiopathic hypercalcemia, and a characteristic neurodevelopmental and behavioral profile”. The disease does not seem to afflict anyone specific gender, ethnicity, race, or socioeconomic background. However, it does seem to be most prevalent among children, affecting 7500 of every 20000 births. The most common symptoms of the birth defect according to Dr Rob Hicks (2011) include but are not limited to:
Various in-depth studies of the illness link Williams Syndrome to the genetic makeup of an individual. Dr Rob Hicks (2011), author of “Williams Syndrome” for BBC Health explained that WS afflicted individuals most often have a defect in the DNA chain of chromosome 7 with about 26 genes deleted from its long arm. Unfortunately, chromosome 7 is one of the most important elements of the human gene as this particular gene is tasked with the manufacture of the protein elastin which according to Dr Hicks (2011), is “is responsible for providing strength and elasticity to blood vessel walls. “
Babies born with Williams Syndrome are often underweight upon birth with difficulty in gaining weight and have certain development defects such as speech problems with the ability to speak not becoming present until the age of 3. However, the most concerning matter of this illness is the widespread Cardiovascular complications associated with it.   ...Download file to see next pagesRead More
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