dystrophic orogeny

August 12, 2017 17:51 | Genetic Diseases

word "diastrophic" of Greek origin and means "a curve, gnarled."The term "orogeny" was borrowed from geology.He refers to the process of the curvature of the Earth's crust that occurs during the formative processes such as the formation of mountains, sea basins.In diastrophic dysplasia based on the defect, in which, along with other systems, disrupted the proper development of bones epiphysis.The disease is a variant of dwarfism with short limbs.Diastrophic dysplasia is among the diseases in which pathological changes could be observed in the bone and cartilage in the joint tissues, oral cavity and 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.It is believed that in the development of dyspla

sia diastrophic a role belongs to the mother infection in early pregnancy or received during this period of antimicrobials tetracycline.

Manifestations pronounced form diastrophic dysplasia can be seen from the very birth of the child.All signs of disease in infancy almost the same as in older age.They consist in shortening the course, the development of contractures of the joints, the appearance of the child talipomanus and clubfoot.All joints are developed flexion contractures, except joints of fingers, which marked the emergence of extension contractures.In infancy the most characteristic symptom is inflammation diastrophic dysplasia ears, causing various deformations are formed in the upper part of the outer ear.Shortly after the moment that the child begins to walk, and in some cases in the past, there is curvature of the spine, which can dramatically improve.These children are very stunted by their peers (the dwarfs) and bad move.When X-ray revealed a flattening and epiphyseal bone deformation, subluxation and dislocation are determined in large joints (hip, knee, shoulder, elbow) and some other characteristic features.Mandatory sign diastrophic dysplasia is a deformity I metacarpal bone, which has a circular or triangular shape.These changes are determined by X-ray bones of the hand.Mild dysplasia diastrophic difficult to diagnose.Children with the variant of the disease - are not dwarfs, they may be missing contracture in joints and scoliosis (curvature of the spine).However, they observed extensor contractures of one or more fingers of the hand can be detected in various joints subluxation.Radiographic changes are of the same nature as in the severe form, but much less pronounced.

assumed that diastrophic dysplasia is transmitted in an autosomal recessive inheritance type.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 diastrophic dysplasia, should consult geneticist physician, not only in respect of risk of re-birth of a sick child, but in the sensethat the next sick child diastrophic dysplasia can be expressed much more.

features such as cleft palate deformity and ears, seen in a smaller number of people with diastrophic dysplasia.In addition, deviations may occur such as enlargement of the liver and various hernia.In the literature, there is evidence that when diastrophic dysplasia high infant mortality from pneumonia caused by a variety of developmental abnormalities of cartilage of the pharynx and trachea, as well as a violation of the normal airway structure.

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