Cornelia de Lange Syndrome

Paper Summary:

This paper studies the genetic disorder called Cornelia de Lange Syndrome; a disorder affecting fetal development and presenting with a complete host of disorders and disfigurements, including deformed or missing fingers or limbs, retardation, speech impairment, cardiac issues and severe esophageal-gastric problems requiring immediate surgery. According to this paper, the gene responsible for this disorder was isolated by two research teams in spring of 2004 and these findings are also discussed as are their implications.

From the Paper:

"This paper presents a brief yet comprehensive review of Cornelia de Lange Syndrome (CdLS), a genetic disorder that affects the developing fetus in the womb, and is most often diagnosed in infants through the presentation of multiple physical abnormalities evident at birth, including: impaired growth, gastroesophageal reflux and feeding problems, upper limb abnormalities and distinctive facial features such as thin eyebrows that join together, long eyelashes, thin lips and excessive body hair. CdLS affects approximately 1 - 10,000 children. Our presentation will be broken down into logical reporting sections that closely parallel the Clinical Case Studies section of the text, including Principles, Background, Major Phenotypic Features, Pathogenesis/Molecular Basis, followed by a brief discussion on inheritance risk and disease management. Please note: no specific case will be identified; therefore, a case history will not be presented."

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