X-ray genetic phenotype of congenital disease development

Abstract

The aim of the study is to describe the radiological phenotype of vertebral malformations in congenital scoliosis and to discuss the possible mechanisms of morphogenesis of some of these anomalies. The article describes 5 cases of complete or partial splitting in the sagittal plane of the body of one of the thoracic vertebrae (butterfly-shaped vertebra). The anterior vertebral cleft was combined with other congenital vertebral anomalies: block of vertebra, hemivertebrae, spina bifida posterior. All patients had scoliosis with right-sided or left-sided curves. In the human fetuses of the first trimester of gestation without visible malformations in the cartilaginous anlages of the thoracic vertebral bodies we revealed the presence of one o three centers of ossification, and in the fetus with exensephaly – the lack of the intervertebral disc anlage between the bodies C2-C3. According to the published data, the etiology of congenital vertebral anomalies is multifactorial. In the pathogenesis of this pathology, there is a violation of local blood flow due to the anomalous course of intersegmental arteries and as a consequence – a complete or partial separation of adjacent somites or associated mesenchyme. According to the published data, a possible cause of the anterior cleft may be untimely an involution of cartilage canals, the growth of which in the cartilaginous anlage of the vertebral body precedes the appearance of the ossification center. The absence of the intervertebral disk at a considerable length between the cartilaginous anlages of bodies 2 and 3 of the cervical vertebrae in the human fetus with exencephaly indicates a close relationship between the axial skeleton and the neural tube.