[Abstract]: Ekman first reported hereditary fragile bone disease in 1788, Lobstein in 1833, and Spurway in 1896, who found that fragile bones were often associated with blue sclera and reported cases of blue sclera combined with susceptibility to fracture. 1917, VanderHoeve, a German physician, described the syndrome in more detail, linking blue sclera, bone The three major symptoms of blue sclera, fragile and fracture-prone bone, and conductive deafness were linked and established as a separate syndrome. The incidence abroad is 0.0004% of live births. In China, 661616 people were surveyed and 10 cases were found, with a prevalence of 0.015%. [Alias]: Brittle bone a blue sclera syndrome; otosclerosis and blue sclera syndrome; deafness a blue sclera a bone brittle syndrome; congenital osteogenesis imperfecta; osteogenesis imperfecta syndrome; bone brittle disease; bone brittle syndrome; bone fragility syndrome; Adair–Dighton syndrome; Eddowes syndrome; Ekman syndrome; Lobstein syndrome; Parak- Durant syndrome; Spurway syndrome; Violiek syndrome; Lkman–Lobstein syndrome; Hoeve–Dekleyn syndrome. [Etiology]: Etiology unknown, autosomal dominant. Osteogenesis imperfecta is a mesodermal defect that leads to abnormal defects in bones, ligaments, connective tissues and sclera throughout the body, resulting in reduced osteoblasts, failure of reticulocytes to differentiate into collagen fibers, and sclerosis of the inner ear and thinning of the sclera to a blue color. [The blue sclera is the main feature of the disease. Both sides of the sclera are symmetrically clear and light blue, which is relatively uniform. After the sclera thins, the choroid between the sclera and retina can easily transmit its color, so it is blue). 2. Also seen are microphthalmia, endophthalmos, ptosis, cone cornea, corneal youth ring, recurrent corneal rupture, giant keratoconus, occasional hyperopia, round nucleus cataract and open angle glaucoma. 3. The syndrome can be divided into three types: fetal type; infant type; juvenile type. I. Fetal type: the most severe, mostly stillbirth due to incomplete skull ossification. II. Infant type; common, fractures can occur after birth, more serious after 4 to 5 years of age, but significantly reduced after young adulthood. Due to poor healing of multiple fractures, multiple malformations can occur, and conductive deafness occurs in about 1/4 patients due to otosclerosis or relaxation of the auditory chain. In addition, there may be joint dislocation, missing teeth, hand and foot deformities, alligator bifida, spina bifida, congenital heart disease, etc. Juvenile form: late onset and mild symptoms, with a tendency of self-healing after puberty. 4. Laboratory examination: serum calcium is often increased, while serum phosphorus is normal, serum alkaline phosphatase activity is increased in about 30% of cases, and amino acid excretion in urine is increased. 5. X-ray examination: bone quality is generally osteoporotic, changes in the long bones of the limbs and the skull are more obvious, and the vertebrae are often biconcave deformed. [Treatment]: 1. No special treatment, symptomatic treatment. Because of the high ectopic rate of the disease, prohibit inbreeding and promote eugenics as the prevention method of the disease. 2. cone cornea can wear corneal contact lenses, the general condition of the adults can still be good corneal transplantation, in order to improve vision. 3. otosclerosis, domestic feasible hearing bone shaking surgery, to improve hearing.