Imperfect osteogenesis

Imperfect osteogenesis - is a rare congenital malformations of bone tissue, manifested brittle bones. In 10-15% of cases there is a hereditary disease.
There are two forms of imperfect osteogenesis: early, or disease Vrolijk, in which multiple fractures occur in utero or appear in the first days after birth, and later, or idiopathic osteopatias disease Lobstein. For late form fractures appear after the first year of life, when the child begins to walk.
In the congenital form imperfect osteogenesis child is born with a curved and shortened limbs. When the feeling is defined multiple bone spur, is sometimes felt crepitus. Fractures malevolently arise in the long tubular bones, ribs, clavicle, often for no apparent reason: when diapering, during the games, and so on, the Bones of the skull soft, he reminds leather bag with a separate bone plates. Muscle gipotonica, ligamentous apparatus is weak. The sclera of the eye dark blue. Changes of internal organs are usually absent. For a late form of the disease typical triad of symptoms: brittle bones, mainly of the lower extremities, blue eyes and deafness. The latest sign arrives late, at the age of 20-30 years. Marked lag in physical development of children, the deformation of bones, muscle atrophy and loosening joints. Teeth often grow wrong, yellow, easily crumble. With age, the tendency to fractures reduced. In mental and sexual development of children do not lag behind.
Radiographically with imperfect osteogenesis determined by the increased transparency of bone tissue, multiple fractures of the tubular bones. For disease Vrolijk characteristic clear border between the epiphysis and diaphysis, for diseases of Lobstein - osteoporosis. The differential diagnosis should be deleted rickets (see), the chondrodystrophy (see).
At this early form of imperfect osteogenesis babies are stillborn or die early from the joining of other diseases, often pneumonia.
A late form differs more favourable for the patients can live a long, however, remain severe disabilities.
Treatment. Fractures impose a plaster splint. A late form of the disease need to protect the child from injury. With the preventive purpose appoint orthopedic devices, massage, therapeutic gymnastics, physiotherapy. In some cases, to correct limb deformities shown surgery. Of drugs recommend hormone of the thyroid gland, pituitary gland, a vitamin D.

Imperfect osteogenesis (osteogenesis imperfecta) - severe congenital systemic disease of the skeleton.
There are two forms: congenital (osteogenesis imperfecta congenita, a disease Vrolijk) and late (osteogenesis imperfecta tarda, osteopsathyrosis disease Lobstein). The majority of domestic and foreign authors believes that both forms have the distinction is not in effect, and in the intensity of pathological changes. The first form is characterized by the appearance of multiple fractures during pregnancy, at birth or soon after birth; second, fewer fractures and the emergence of them only in the first months or years of a child's life. In this regard, imperfect osteogenesis called still's disease Lobstein - Trapca.
The etiology and pathogenesis imperfect osteogenesis still remain outstanding. In the basis of the disease lies in vices of the development of the mesenchyme and first failure osteoblastami activities. The last is a violation of peri-rest of bone formation preserving normal epiphyseal ossification. In this regard, in patients there was a decrease of periosteal and endosteal functions, resulting in impaired bone growth in thickness, along with the normal increase in length as the epiphyseal cartilage bones and sprout album preserve their common properties. Policar (A. Policard) explained the disease malformation of the periosteum, and Kaufmann (E. Kaufmann) believed that with imperfect osteogenesis violation occurs bone regeneration functions of all elements of the bone (periosteum, endast and bone marrow). Other authors, without evidence linked the disease with a violation of the endocrine glands (thyroid, parathyroid, and others). Bauer (K. Bauer) explained the development O. N. innate inferiority of osteoblasts and Century A. Rusakov argues that the disease develops as a result of violations of the relationship of the enzymatic systems that determine the correct formation of bone tissue.