Pseudochondroplasia

Pseudoahondroplasia is a disease that occurs with the defeat of the epiphyses of bones, accompanied by pronounced dwarfism with shortened limbs. This disease was first described in 1959. Pseudochondroplasia is one of the most complex and poorly studied diseases in the group of bone dysplasias. It is a disease in which both epiphyses and metaphysis of bones are affected. The mild cases of pseudo-chondroplasia are very reminiscent of the manifestations of severe cases of multiple epiphyseal dysplasia.

Children with pseudochondroplasia are born without visible deformities of the skeleton. After 2-3 years of age, the child's lag in growth gradually becomes noticeable, the degree of curvature of the lumbar spine appears and the gait becomes overwhelming. In addition, the child's physique changes: the limbs are shortened( due to the divisions located closer to the trunk: shoulder and thigh), the brushes become wide, the fingers short and thick, the feet flatten out. In some children, the axis of the lower extremities is broken, which manifests itself in the form of O-or X-shaped curvature of the legs. When moving in the joints, one can note their increased mobility, especially the joints of the hand. The exception in such cases is only the elbow joints, where flexion contractures appear.

Some children with pseudochondroplasia can develop early arthrosis, with hip and knee joints being affected first. Despite the fact that the signs of pseudoahondroplasia in all patients are approximately the same, the severity of their manifestation can vary significantly. At the same time, some children with this disease - dwarfs with very short and deformed limbs, others have low growth, but are not dwarfs, their limbs differ somewhat longer. The signs that can be detected during X-ray examination may also differ in their degree of severity, but their essence remains the same: the vertebrae flatten, their central part lingua-like. When the child reaches adolescence, the vertebrae are restored to a certain extent. Tubular bones( shoulder, forearm, thigh and bones of the shin) are shortened, their metaphysis is expanded, and the epiphyses are reduced in size and deformed, and with age the degree of deformation increases, which is more pronounced in the lower extremities.