Ontology of Congenital Spine Defects

Abstract

Deepening and generalization of existing knowledge about rare diseases and congenital anomalies are becoming relevant in modern medical practice. Understanding the features of prenatal morphogenesis of the spine and spinal cord, as well as postnatal changes of the cartilaginous spine, is necessary to interpret the severity of pathologies and predict their complications. The purpose of the study was to analyze and summarize the information of sources of scientific literature on the congenital spine development defects, their classification and interpretation in alphabetical order. This study is a continuation of our previous studies on the congenital development defects of the human skeleton. The embryological development of vertebrae is complex, so errors in the laying and formation of their basic structures can lead to various types of congenital malformations. Disorders of the spine are associated with changes in the number of vertebrae (occipitalization, thoracolization, lumbalization, sacralization); change in the shape of the vertebrae: vertebrae or wedge-shaped vertebrae (with developmental delay in the anterior parts), spondylolysis (with delayed development of the vertebrae in the posterior parts); impaired development of arches and vertebral bodies. Congenital malformations of the spine can be single, multiple, or mixed. Spinal abnormalities are not always noticeable at birth; they may manifest during growth in the form of deformities or neurological disorders. Common spinal deformities are scoliosis, kyphosis, lordoscoliosis or kyphoscoliosis. In addition to congenital malformations of the spine, a number of concomitant abnormalities should be considered, such as thoracic, intravertebral, cardiac, and urogenital. The severity of congenital malformations of the spine is divided into moderate (require serious treatment, but not life-threatening); severe (to save the child's life, it is necessary to urgently carry out treatment); lethal (incompatible with life anomalies, the child dies during childbirth or in the womb). Conclusion. Treatment of congenital malformations of the spine is long and comprehensive, requires a clear plan and the involvement of specialized specialists, including pediatric orthopedists and neurosurgeons. Based on the analysis of literature sources, an attempt was made to summarize the existing information on congenital malformations of the spine and their classification and interpretation according to the alphabet was proposed