OSTEOPETROSIS: Bones of Stone

The increase in density (consistency) of the bones, causes various skeletal abnormalities, which can be generated from mild discomfort to disability or death. Adults can control it, but children face greater problems.
Naturally, our skeletal system has a cycle of bone reconstruction in which tissue is destroyed old to make way for a new one, this process should always seek a balance, because when it is disturbed are health-threatening skeleton and skull.
It should be noted that when the cells involved in bone breakdown (called osteoclasts) are generally higher in number to those that produce it (osteoblasts), there is considerable decrease in bone mineral density (composed of calcium and collagen, mainly), what which causes bones to become porous, thin and fragile, therefore, susceptible to fracture with minimal exertion. This condition is called osteoporosis, and usually affects older people.
However, you can also excite the opposite phenomenon, ie the number of osteoblasts more than osteoclasts, allowing the accumulation of minerals, the bones becoming too dense, a disease called osteopetrosis, bone or stone .
Osteopetrosis, also known as Albers-Schönberg disease is quite rare, to the extent that it has an incidence of between 20 000 births, or develops in one in 200 000 adults. The most common cause is a genetic defect that causes lack of substance carbonic anhydrase II, responsible for allowing the osteoclasts are found in sufficient quantity and / or function properly. What happens then is that the new bone builds up and causes the skeleton is too heavy, one of the most serious consequences to leave little room for the bone marrow (the substance that gives rise to the formation of blood cells) in each of vertebrae.
Note that this disease is inherited in two ways:
Recessive. Occurs when both parents carry the defective gene and is characterized by its appearance in the newborn and be progressive, to the extent that leads to death, and that closes the cavity of the bone that houses the bone marrow, causing anemia ( explained below) very severe deformities in the skull and compression of the nerves that are housed there.
Dominant. One parent transmitting the disease gene to their offspring, and their impact is milder and late manifestations, which allows the patient reaches adulthood. Sufferers are short and, paradoxically, bones that break easily.
credit to: Raul Serrano