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Imperfect bone formation

Imperfect bone formation – the inborn frustration which is characterized by fragility of bones which tend to the increased fragility. People with imperfect bone formation are born with defects of connecting fabric or deficit of collagen like I. In most cases frustration is caused by mutations of genes of COL1A1 and COL1A2. The disease occurs at one of 20000 newborns. Несовершенный остеогенез у ребенка

Types of imperfect bone formation

Distinguish eight types of imperfect bone formation.

The type I is the most widespread, differs from the others in the fact that collagen has normal qualitative properties, however is developed in insufficient quantity. Symptoms of imperfect bone formation like I are:

Fragility of bones;
Weakness of joints;
Slightly acting eyes;
The lowered muscle tone;
Early hearing loss at some children;
Insignificant rachiocampsis;
Decolouration of scleras (whites of the eyes) that, as a rule, gives them a blue-brown shade.

Symptoms of imperfect bone formation like II are:

Insufficient content of collagen;
Respiratory problems because of underdeveloped lungs;
Low growth;
Deformation of bones.

The II type can be subdivided into the A, B, C groups which differ thanks to a radio graphic research of a long tubular bone and edges.

In most cases patients die within the first year of life in connection with respiratory insufficiency or intracraneal hemorrhage.

Imperfect bone formation of the III type is characterized by the following symptoms:

Collagen is produced in enough, but not sufficient quality;
Easy fragility of bones, sometimes even at the birth;
Deformation of bones;
Possible trouble breathing;
Low growth, rachiocampsis, sometimes also thorax bochkovidnost;
Relaxation of ligaments of joints;
Weakness of a muscular tone of hands and legs;
Decolouration of scleras (eye proteins);
Early loss of hair.

Life expectancy can be normal, though with heavy disfigurations.

The IV type of imperfect bone formation is characterized by symptoms:

Collagen is produced in enough, but not of rather high quality;
Bones collapse easily, especially before puberty;
Low growth, rachiocampsis and barrel-shaped shape of a thorax;
Weak or average deformation of bones;
Early hearing loss.

The V type of imperfect bone formation has the same clinical signs as type IV. Differs in outward of a sievebone, radial dislocation of the head and the mixed hearing loss, leads to membrane calcification between two bones of a forearm. Мальчик с несовершенным остеогенезом I степени

The type VI of imperfect bone formation has the same clinical signs, as type IV, but differs in uniqueness of histologic data of a bone tissue. Like VI loss of functions and a mutation of a gene F1 Serpinum are the reasons of imperfect bone formation.

Like VII the mutation of a protein of cartilaginous tissue is the reason of imperfect bone formation, and imperfect bone formation like VIII is heavy and deadly frustration which is connected with change of the protein containing a leucine and proline.

Treatment of imperfect bone formation

Treatment of imperfect bone formation does not exist as this disease is inborn (genetic). Treatment is directed to increase in the general durability of bones to prevent and suspend their further destruction. Also apply therapy bisfosfonaty which promotes increase in bone weight, reduction of an ostealgia and their destruction. In hard cases apply surgical intervention and place cores in bones.

Whether you know that:

In the aspiration to pull out the patient, doctors often go too far. So, for example, a certain Charles Janszen during the period from 1954 to 1994 endured more than 900 operations on removal of new growths.

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