Deformities Of The Vertebral Column Essay

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¶ … defects that can affect the vertebral column, some clinically serious, others that can be corrected by surgery and still others that denigrates the affected individual's lifestyle to a high degree. Such deformities and maladies as spina bifada, scoliosis and chordoma can all be debilitating on the individual. Due to the complexity of the vertebral column, it is often difficult to diagnosis and treat many of the afflictions that present in many patents. One recent study determined that "due to the sporadic occurrence of congenital vertebral malformations, traditional linkage approaches to identify genes associated with human vertebral development are not possible" (Giampietro, Raggio, Reynolds, Shukla, McPherson, Ghebranious, Jacobsen, Kumar, Faciszeski, Pauli, Rasmussen, Burmester, Zaleski, Merchant, David, Weber, Glurich, Blank, 2005, p. 448). Of course, that particular study was conducted almost a decade ago and great strides have been made since that time, but it is still a very difficult maneuver to discover exactly what malformations are taking place in the vertebral column and decide on the appropriate treatment.

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study attempted to discover was whether DNA sequencing could assist researchers in discovering how malformations took place and if any of the prevalent vertebral malformations were inherited traits. However, the study discovered that "our inability to reach a straightforward interpretation of our data illustrates the challenges of identifying the role of patterning genes in the pathogenesis of sporadic vertebral malformations" (Giampietro et al., p. 452).
One of the less common malformations in the vertebral column is the variation in the number of vertebrae which can be too many, or not enough. A good example of this type of scenario is a patient that is experiencing Klippel-Feil syndrome.

Discovered in the early 1900's, this syndrome takes place when any two of the seven cervical vertebrae experience congenital fusion. As one recent study determined, Klippel-Fiel syndrome is "characterized by the congenital fusion of any two of the seven cervical vertebrae and is often accompanied by Sprengel's deformity and existence of omovertebral bone"…

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Giampietro, P.F.; Raggio, C.L.; Reynolds, C.E.; Shukla, S.K.; McPherson, E.; Ghebranious, N.; Jacobsen, F.S.; Kumar, V.; Faciszewski, T.; Pauli, R.M.; Rasmussen, K.; Burmester, J.K.; Zaleski, C.; Merchant, S.; David, D.; Weber, J.L.; Glurich, I.; Blank, R.D.; (2005) An analysis of PAX1 in the development of vertebral malformations, Clinical Genetics, Vol. 68, Issue 5, pp. 448-453

Rosti, R.O.; (2013) Of mice, men, and King Tut: autosomal recessive Klippel-Feil syndrome is caused by mutations in MEOX1, Clinical Genetics, Vol. 84, Issue 1, pp. 19 -- 19


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