Osteogenesis Imperfecta Causes

Causes of Osteogenesis Imperfecta is congenital disease. Men and women are likely incidence. Osteogenesis Imperfecta can be divided into two types include congenital type and delayed. Type of congenital is onseted in the womb, can be further divided into fetal and infantile. In a serious condition, mostly dead, or a short period of post-natal death. Is autosomal recessive, late-onset disease are lighter, can be divided into juvenile and adult type. The majority of patients can be long-term survival, is autosomal dominant. More than 15% of patients have family history.

The disease showed autosomal dominant or recessive inheritance, less can be sporadic cases. Blue sclera delivery was 100%, hearing loss according to age. Many sporadic cases caused by new mutations are often associated with old age on the Parent.

Osteogenesis imperfecta is a disease mainly of collagen type I because of the composition of the α 1 or α 2 procollagen (Pro-α 1 or Pro-α 2) chain gene (ie, COL1A1 and COL1A2) mutations, leading to I-type collagen synthesis of obstacles, in particular the volume of connective tissue collagen is decreased collagen type I collagen is the skeleton, skin, sclera, and dentin collagen in such organizations as the main component, so these parts of the lesion more clearly.