Osteogenesis Imperfect Congenital

Osteogenesis imperfecta (intrauterine) (osteogenesis imperfecta congenita) is a group of genetically heterogeneous skeletal diseases characterized by impaired mineralization of bone tissue. With this disease, the bones become brittle, brittle, and are susceptible to deformation and pathological fractures.

The main causes of osteogenesis imperfecta are mutations in the genes responsible for the synthesis of proteins involved in the process of bone mineralization. These mutations can be either hereditary or acquired.

Clinical manifestations of osteogenesis imperfecta can be different and depend on the severity of the disease. Newborns and young children may experience multiple bone fractures, skull and limb deformities, and developmental delays.

Diagnosis of osteogenesis imperfecta is based on clinical symptoms, radiographic data and genetic studies. Treatment may include medications, surgery, orthopedic adjustments, and physical therapy.

The prognosis for osteogenesis imperfecta depends on the severity of the disease and the timeliness of diagnosis and treatment. In most cases, the disease is benign, but complications such as bone deformities, pathological fractures and growth disturbances may occur.

In general, osteogenesis imperfecta is a serious disease that requires timely diagnosis and proper treatment.