Osteogenesis Imperfecta

Osteogenesis imperfecta, also called periosteal dysplasia, is a rare congenital bone dysplasia disease. It is a group to increase bone brittleness and collagen metabolic disorder characterized by systemic connective tissue diseases. The lesions are not limited to bone, is also usually extended to other connective tissue such as eyes, ears, skin, teeth, etc., which is characterized by multiple fractures, blue sclera, progressive deafness, dental changes in joint laxity and skin abnormalities. The disease has a congenital and hereditary, but there is a small number of cases as a sporadic.

Osteogenesis imperfecta is a genetic variation of a typical example, in recent years in biochemistry, cell ultrastructure and molecular level, quite a number of studies. From osteogenesis imperfecta patients with bone cells and bone defects in cell growth of cultured cells on the transfer factor (TGF-B) failed to respond to, and from normal human bone cells in cell culture fanatic, TGF-B at the same time to stimulate collagen synthesis to increase the activity of alkaline phosphatase. Osteogenesis imperfecta that bone cells are at different stages of maturity at the end of the degree.

Osteogenesis imperfecta with Sillence classification include:

Type 1: autosomal dominant inheritance, blue sclera, bone deformities only mild performance;

Type 2: congenital type;

Type 3 for severe, showing a lot of cases of intrauterine growth delay after birth fracture, clinical on serious bone and joint deformities, the performance of blue sclera infancy, children are not significantly beyond, the type of patients can survive to adulthood;

Type 4 for autosomal dominant inheritance, but without blue sclera, moderate bone and joint deformities, no intrauterine growth delay, the general slow growth, short stature.