Spondylo-costal dysostosis

This disease has been described by many researchers as a pathology of the musculoskeletal system, manifested by low growth, shortening of the neck and trunk, curvature of the spine according to the type of scoliosis, determined by X-ray examination of various abnormalities of vertebral development and synostosis. Manifestations of the disease depend on the level of localization of deformation of the vertebrae and the number of intergrown ribs. Moreover, in the case of symmetrical deformation of the vertebrae and ribs, the spine axis suffers little, and its curvature is not observed in this case. If the bony deformations are located asymmetrically, then the deformation of the spine and thorax can be sharply expressed.

For example, with an asymmetric lesion of the cervical and upper thoracic spine, the head inclination( asymmetry of the face), the asymmetry of the shoulder-blades are noted. When the thoracic spine is affected, a scoliosis of varying severity is noted, and if the lumbar region is affected, there may be a deviation of the trunk to the side. Movement in the spine also depends on the degree of its defeat. With a continuous lesion of the ribs and spinal column, movements in it may be absent completely. In the case of less pronounced changes, there is a restriction of movements of different degrees of severity. Radiographic examination of the spine reveals all kinds of malformations of the vertebrae. The number of ribs differs from one side and the other. The fusion usually occurs in the posterior parts of the ribs and in various combinations.

This pathology of the bone system can be transmitted both by autosomal recessive and autosomal dominant type of inheritance. Both forms of the disease are similar in appearance, but there is an opinion that in the recessive form, bone deformities are more severe than with the dominant one, which leads to the death of the child in the first year of life. The reason for this is frequent respiratory infections( bronchitis, pneumonia and some other diseases of the respiratory system).In such severe cases it is possible to perform ultrasound prenatal diagnosis with a gestation period of 20 weeks.

A large group of lesions of the human musculoskeletal system consists of anomalies that occur in isolation or in combination with other malformations. There are many different forms of isolated fusion, as well as increasing the number of fingers and / or fingers. All these developmental anomalies are transmitted by an autosomal dominant type of inheritance, as well as different types of shortening of the fingers. Most cases of bilateral cleavage of the hand( clawlike defect) are transmitted by an autosomal dominant type of inheritance. According to modern data, the most common anomalies of the human musculoskeletal system is congenital hip dislocation, congenital clubfoot and dysplastic scoliosis. In the formation of these diseases, not only the genetic mutation plays a role, but also the influence of unfavorable environmental factors, that is, they are multifactorial( arise under the influence of a large number of unfavorable factors).