Brittle bone disease is a type of osteogenesis imperfecta, characterized by fragile bones, blue sclera, deafness, and joint laxity. It is caused by underdevelopment of mesenchymal tissue and disorders of collagen formation. Congenital hereditary pain. Men and women are equally affected. It can be divided into two types: congenital type and delayed type. Congenital type refers to onset in utero, and can be further divided into fetal type and infantile type. The condition is serious and most cases result in death or death within a short period of time after delivery. It is an autosomal recessive inheritance, and those with late onset have milder disease. It can be divided into childhood type and adult type. Most patients survive for a long time and it is inherited in an autosomal dominant manner. More than 15% of patients have a family history. Fractures should be reduced and fixed as usual. You should pay attention to nutrition at ordinary times to avoid injury. There is literature claiming that bisphosphonates can treat this disease.

Clinical Symptoms

(1) Fractures: Minor injuries or daily activities can cause fractures. Fractures can connect on their own, but slowly. It will no longer occur after adolescence.

(2) Blue eyes: Patients may have dark blue sclera, which is caused by the pigmentation of the choroid of the eye.

(3) Deafness: It is more common in patients over 20 years old and is caused by bone sclerosis of the small bones in the ear. About 25% of cases suffer from deafness.

(4) Others: muscle weakness, joint laxity, short stature, incomplete calcification of deciduous teeth and translucent appearance, but normal intelligence. During X-ray examination, bone porosis was found throughout the body. The long bones are small, thick at both ends, and the cortex is extremely thin. Each bone often has deformities such as bending or fracture and poor connection. The vertebrae are flat and biconcave, and the intervertebral discs are enlarged and biconvex.