Birth Defects of Human Spinal Column

Abstract

Various anomalies of spinal column development have common clinical manifestations. However, each defect has certain features that affect the nature of the deformity, the rate of its progression, the function of the spinal cord and the possibility of developing neurological disorders. An increase in deformation in the anomaly zone can lead to segmental instability at this level, which further cause disturbance of the biomechanics of the spine in general. The cervical section is the most mobile section of the spine, which is provided by the structure of the Atlantic-axial complex and functional mobility of the subaxial section. The detected anomaly should be evaluated in terms of the likelihood of developing instability. Mechanical instability is manifested by the displacement of vertebrae beyond the physiological range of movements. Neurological instability is mostly manifested in the subaxial section of the spine, as the reserve space of the spinal canal is extremely small. Congenital abnormalities of the thoracic spine that lead to deformity are the most common defects against the ground of impaired formation of vertebral bodies. Children with congenital kyphosis are motionless, and dyspnea occurs while walking fast or jogging. Surgical treatment of kyphotic deformities of the thoracic and lumbar spine is one of the most difficult problems in modern orthopedics, the relevance of which is stipulated by a relatively high frequency of unsatisfactory results of treatment. Lumbarisation is a congenital malformation of the spine, accompanied by the formation of an additional lumbar vertebra, which is formed from the superior sacral vertebra that has not fused into a single bone with the other sacral vertebrae. The frequency of occurrence is unknown, because lumbarisation in some cases is asymptomatic and undiagnosed. Depending on the nature of anatomical changes and the peculiarities of the influence on the dynamic and static functions of the spine, unilateral and bilateral lumbarisation are distinguished. Both unilateral and bilateral forms can be bone, cartilage and joint. The development of pain is characteristic only of the joint form of lumbarisation. Caudal regression syndrome is a rare severe congenital malformation of the distal spine and spinal cord. Clinically the disease is accompanied by hypoplasia of the lower half of the trunk and extremities due to a gross defect in the development of the caudal spine and spinal cord. Depending on the level and severity of the lesion of the latter there is a different stage of neurological deficit. In most observations, caudal regression syndrome is combined with defects in other organs and systems. Depending on the level of damage to the spine, coccyx, sacral, lumbar and even lower thoracic vertebrae may be absent, which determines the variant of the defect. An extremely severe form of caudal regression is called sirenomelia, or "mermaid syndrome". A sign of this anomaly is the fusion of the lower extremities. The fusion can be osseous or within soft tissue. In most cases with sirenomelia renal agenesis is observed, the colon ends blindly, the external and internal genitalia are absent, a single umbilical artery and anus atresia are detected. The quality of life prognosis for patients with caudal regression syndrome depends on the severity of spinal and spinal cord defects, the severity of neurological disorders, and urological complications. Children need constant medical rehabilitation.