Presumptive causes of imperfect osteogenesis are congenital anomalies in the structure or metabolic processes of collagen, a special protein of connective tissue. Usually this occurs as a result of mutations in the genes encoding this protein and violating the correct synthesis of this protein. Protein collagen is necessary for the construction of bone and cartilaginous tissue, ensuring the correct growth of the skeleton and its strength and elasticity. When problems appear immediately after birth, the dominant inheritance of the disease is mentioned, usually the child inherits the problem from one of the parents.
Heavy forms are usually inherited by recessive type, but then the gene is detected in both parents or occurs as a result of spontaneous mutations.
Symptoms of the disease The main symptoms of imperfect osteogenesis are associated with lesions of the bony system of the child. There is an increase in fragility of the bones from minor injuries, while the bones are strongly deformed from the usual loads. At the same time, bones of soft consistency are often shortened and thickened by compression when trying to walk. This syndrome is characterized by typical blue eye sclera, the muscles are affected, they are poorly developed, and joints and ligaments are poorly developed in parallel. Frequent bleeding, there are gross scars of the skin, with the severity of lesions depends on the course of the disease.
Severe forms of imperfect osteogenesis are manifested in the presence of multiple fractures, torsion of bones along the axis, which causes their shortening and thickening, especially in the region of the femoral and tibial, radial and ulnar bones, humerus. Such children die during childbirth or in early childhood, but if they survive, then because of their sharply shortened limbs they form a low growth and a relatively large head with a small face, the spine is strongly curved. Teeth are affected and drop out quickly, which disrupts the process of eating. Also due to the anomaly of connective tissue, multiple other defects and problems are identified. There is an abnormal coloring of the sclera and vascular defects with a tendency to bleeding. With milder forms, muscle weakness and joint problems are observed, there are strong scars from wounds, heart failure may occur due to valve valve problems.
Diagnosis Imperfect osteogenesis can be diagnosed prenatally, although diagnosis is more advanced after birth. First of all, signs of changes in the bones on the ultrasound of the fetus are revealed, the density and ossification of the bones are broken, the brain structures are more clearly visible. Postnatal diagnosis is based on a triad of symptoms:.
- blueness sclera, hearing loss and brittle bones.
If there is a suspicion of imperfect osteogenesis, a comprehensive examination is performed-X-ray, blood and urine tests, bone densitometry.
Treatment of imperfect osteogenesis Since this is a genetic defect, the drug can not be treated with medication.
Applicable only surgical methods of treatment in combination with exercise therapy. But because of the pathological softness and fragility of bones, its effectiveness is also low. Sometimes helps the use of magnesium in therapy. It is necessary to avoid injuries, strengthen muscles, move gently. From birth, children are seen by a doctor.
The outlook is unfavorable, many children die at an early age, the overall life expectancy is sharply reduced.
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