What is craniodiaphysal dysplasia?

Craniodiafysseal dysplasia is an unusual genetic disorder in which calcium accumulates excessively in the bones, causing extreme reinforcement and hardness. It is progressive and usually becomes fatal in childhood, because it seriously disrupts the neurological function. There are options for managing craniodiaphysal dysplasia, including surgery and drugs to improve the quality of life. Also known as lionitis, the condition seems to be recessive and very few cases have been described, making it difficult to determine genetic connections. As the skull thickens, facial features can be distorted and the patient's face can be rounded and prolonged. In the skull there is a series of holes known as foramin, which provide holes for nerves, blood vessels and ligaments. Initially, this can cause problems such as recurring sinus infections due to poor drainage.

Above Time, neurological symptoms may develop because the narrowing of foramin begins to compress the patient's nerves. May cause blindness and deafness and patients canOU to develop partial or overall paralysis due to spinal cord compression. The doctor may recommend surgery for decompression, but craniodiaphysal dysplasia can replace the removed bones after surgery after surgery and the problem may reappear. Surgery can also carry significant risks as this may include fine structures.

The rest of the body can also develop symptoms of craniodiaphysal dysplasia. Growth plates at the ends of long bones can begin to thicken and harden too early. The X -ray can be seen areas of unusual bone densities that show areas where calcium is excessively created and a large number of osteoblasts, cells that create new bones are present. Finally, the thickening may be overtaken by the available treatment can die due to nerve and blood vessel compression.

This skeletal disorder is very unusual and is usually not considered in young patients who appearwith skeletal abnormalities. As the condition proceeds, the diagnosis of craniodefysal dysplasia may become more obvious, as this may be the only condition that actually corresponds to the symptoms. The extreme rarity of the state can make it a topic of interest to experts who can be able to offer proposals for management and treatment that use new drugs and surgical techniques. Since 2011, the failure has been known and prenatal diagnostic testing has not been considered to be a high priority due to low condition.

IN OTHER LANGUAGES

Was this article helpful? Thanks for the feedback Thanks for the feedback

How can we help? How can we help?