Genetic study of clinical variability in the cranio vertebral junction anomalies

Abstract

Introduction: Cranio-vertebral anomalies represent defects of the development in the structures which are located in the transition zone between mobile cranium and relatively rigid spinal column and can involve brain, spinal cord causing various neurological clinic. Study of these conditions is very important and actual in connection with the development of direction in manual therapy as cranio-sacral therapy.

Materials and methods: Theoretical and methodological basis of the study is scientific aspects studied in the domain of congenital vertebrology. The most important part of analysis is based on material of publications which are containing specific studies from the other countries and international statistics.

Results of this research: There were determined health and development particularities of people with cranio-vertebral disorders; substantiated the main concepts in the occurrence of craniovertebral anomalies showing controversies regarding the dynamics of its development; found value and interaction of different factors of influence on the development of cranio-vertebral region; gave reasons for the early identification of developmental points anomaly risk of cranio- cervical junction. Investigated data suggests that malformations in the cranio-vertebral region are quite common among patients in the department of neurology. Among patients who come in the neuro-surgery department with atlanto-axial dislocation 25% have congenital variant of displacement. Clinical polymorphism correlates with a variety of changes at the genetic level.GDF3,GDF6 and MEOX1 genes are involved in bone development and mutations in these genes cause heterogeneity in Klippel-Feil syndrome(KFS). Klippel-Feil syndrome is clinically characterized by a short neck, low posterior hairline and limited neck movement.

Conclusions: The present study provides sufficient evidence that KFS is caused by a mutation in the MEOX1 and GDF3,GDF6 genes. This issue which has a scientific and clinical interest require an interdisciplinary approach that will ensure efficient planning of resources with involving of a performance type of management aimed to improve the situation in this category of patients as soon as possible.