Diastrophic diastrophism

The word "diastrophic" is of Greek origin and in translation means "curve twisted".The term "diastrophism" was borrowed from geology. It denotes the process of curvature of the earth's crust, occurring during formative processes, such as the formation of mountains, sea basins. The basis of diastrophic dysplasia is a defect in which, along with other systems, the proper development of the epiphyses of bones is disturbed. This disease is a variant of dwarfism with shortened limbs. Diastrophic dysplasia is one of the diseases in which pathological changes can be observed in bone and cartilaginous tissues, in the tissues of the joints, the oral cavity and the trachea. This disease, in addition to micromelia, characterized by deformation of the spine and rib cage in the form of scoliosis, dislocation and subluxation in the joints of the limbs combined with their laxity, flexion contractures and pronounced bilateral clubfoot, extension contractures of the joints of the thumb, the deformation of the ears and palate cleft. There is an opinion that in the development of diastrophic dysplasia, a certain role is played by infection of the mother in the early period of pregnancy or by the intake of antibacterial drugs of the tetracycline series during this period.

The manifestations of a pronounced form of diastrophic dysplasia can be seen already from the very birth of the child. All the signs of this disease in infancy are almost the same as in the older age. They consist in the shortening of the limbs, the development of contractures of the joints, the appearance of the child's horseshoe and clubfoot. In all joints, flexural contractures develop, except for the joints of the fingers, in which the appearance of extensor contractures is noted. In infancy, the most characteristic sign of diastrophic dysplasia is the inflammation of the auricles, as a result of which a variety of deformations are formed in the upper part of the external ear. Soon after the child begins to walk, and in some cases even earlier, there is a curvature of the spine, which can dramatically progress. These children are very much behind in growth from their peers( dwarfs) and do not move well. X-ray examination revealed a flattening and epiphyseal bone deformation, determined subluxations and dislocations in large joints( hip, knee, shoulder, elbow) and some other characteristic features. An indispensable sign of diastrophic dysplasia is deformity of the first metacarpal bone, which has a rounded or triangular shape. These changes are determined by radiographic examination of the bones of the hand. Light forms of diastrophic dysplasia are difficult to diagnose. Children with this variant of the disease course are not dwarfs, they may lack contractures in the joints and scoliosis( curvature of the spine).However, they have extensor contractures in one or more fingers of the hand, subluxations in various joints can be detected. X-ray changes are of the same nature as in severe form, but are much less pronounced.

It is assumed that diastrophic dysplasia is transmitted by an autosomal recessive type of inheritance. Quite often parents of sick children are in kinship with each other. Since the disease can occur with varying degrees of severity of the possible manifestations of the parents who already have one child with mild orogenic dysplasia should consult geneticist physician, not only in respect of risk of re-birth of a sick child, but also in the sensethat at the next sick child diastrophic dysplasia can be expressed much more strongly.

Signs such as cleft palate and deformities of the auricles are observed in fewer individuals with diastrophic dysplasia. In addition, there may be abnormalities such as augmentation of the liver and various hernias. In the literature, there is evidence that the orogenic dysplasia, high infant mortality from pneumonia caused by various abnormalities of cartilage of the pharynx and trachea, as well as disturbance of the normal airway structure.

X-ray examination of the skeletal system in children with orogenic dysplasia detected spine changes similar to those of spondee-epiphyseal dysplasia. However, they are accompanied by a kind of defeat of all joints.