Deformities of the Vertebral Column

¶ … 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. What the Giampietro et al. 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" (Rosti, 2013, p. 19). The same study presented data that found that mutations in MEOX1 is what causes the mutations. Some of the more common deformations (as discussed above) are spina bifada, rachischisis, chromoda and scoliosis.

Spina bifada is a condition where there is imperfect fusion of the neural embryonic arch. Neuonal tissues that can be covered by a thin membrane are exposed because of this. Rachischsis takes place when a complex group of anomalies and affect axial structures. What this means is that infants who suffer from rachischsis have neural folds that fail to fuse. Chromoda takes place when a malignant tumor develops and then infiltrates the vertebral bone. Once the tumor infiltrates the bone, it is very difficult to take out.

Scoliosis takes place during the formation of the vertebral column and usually refers to when the vertebra do not fuse together in a correct manner. Since the vertebral column consists of only 33 vertebrae (of which only nine are fused) and many of the defects discussed herein concern the incorrect fusing of these vertebraes, it would seem that additional research would be extremely useful in addressing these deformations. The most important job.