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 ORIGINAL ARTICLE
Year : 2018  |  Volume : 13  |  Issue : 1  |  Page : 46-57

Missing links between genetically inherited molecules in split cord malformation and other anomaly: A bench to bedside approach


1 Department of Neurosurgery, All India Institute of Medical Sciences (AIIMS), New Delhi, India
2 Department of Anatomy, All India Institute of Medical Sciences (AIIMS), Bhubaneswar, Odisha, India
3 Chief Neuroscience Centre and Dean Research, AIIMS, New Delhi, India

Correspondence Address:
Dr. Mayadhar Barik
TEJASWINI AWARDEE, Senior Scientific Advisor and Editor-in-Chief, Clin Diag (A Division of Monash International) New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JPN.JPN_124_17

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Aim: Split cord malformation (SCM) is associated with extensive vertebral fusions (Klippel–Feil anomaly). In light of previous embryological theories and recent research findings, we attempt to document the origin of split cord, and vertebral fusions involvement of spectrum of genes is necessary to know better the etiopathogenesis of SCM and its associated diseases. Materials and Methods: We used the various databases such as PubMed/MEDLINE, Cochrane Review, Hinari, and Google Scholar for the recently published medical literature. The women had been living and still born infants had SCM. The relative risk (RR) and possible molecular mechanism are described details of major genes and its variants in details. Although molecular genetics involvement including with recent advances of study add an evidence of both Mendelian and Non-Mendelian fashion is discussed with all genetic components. We mentioned our earlier experience and responsibility of SCM and its associated diseases. Results: Although different mechanisms are suggested for the development of SCM observed in our experience, there is a midline lesion bisecting the neuroepithelium and the notochordal plate, which is responsible for complete splitting of the cervical cord with anterior bony defect. The localized disturbance of cervical neural tube closure accounts for SCM with partial dorsal splitting of the cord with posterior vertebral defect and associated diseases. Conclusions: According to the best of our knowledge, this report is the first one to be documented by wider spectrum of variants from (experimental studies to human subject). This add a complex interaction of mutant variants drive toward an additional second-hit alterations for the SCM. The up-to-date information, documented in proper order, derived the bench-to-bedside approach to overcome this burden of SCM, which is globally noticed with other additional diseases.






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