What about osteogenesis imperfecta?

Osteogenesis imperfecta (OI) is a rare congenital disorder of impaired bone development, also known as brittle bone disease or brittle bone-blue sclera-deafness syndrome. It is characterized by fragile bone, blue sclera, deafness, and joint laxity, and is a congenital hereditary pain due to underdevelopment of mesenchymal tissue and impaired collagen formation. Its lesions are not limited to bones, but often involve other connective tissues such as eyes, ears, skin, and teeth. The disease is hereditary and familial, but there are a few solitary cases. The cause of the disease is unknown, and it is a congenital developmental disorder. There are two types: congenital and delayed. The congenital type refers to the onset of the disease in utero and can be subdivided into fetal and infantile types. The disease is severe and mostly fatal, or dies within a short period of time after delivery. It is autosomal recessive, while the delayed form is less severe and can be subdivided into childhood and adult forms. Most of the patients can survive for a long time, and the disease is autosomal dominant. more than 15% of the patients have a family history of the disease. The disease is inherited in an autosomal dominant or recessive manner and can be disseminated. Transmission of blue sclera is 100%, and hearing loss varies according to age. Disseminated cases are most often caused by new mutations and are often associated with advanced parental age. The main manifestation is dysplasia of collagen, the main component of skin, tendons, bone, cartilage, and other connective tissues throughout the body. Subperiosteal osteogenesis and endochondral osteogenesis are impaired and normal bone formation is not possible. The histologic changes are that the trabeculae in cancellous and cortical bone become small and poorly calcified, with clusters of chondrocytes, chondrocyte-like tissue, and poorly calcified osteoid tissue. Calcium salt deposition in the bone is normalized. The above mentioned pathological changes result in bone fragility and osteochondrosis. The disease is characterized by skeletal dysplasia, osteoporosis, increased fragility and deformity, blue sclera and hearing loss, but clinical variation is great, with multiple intrauterine fractures and death in the severe cases, and symptoms in the mild cases up to school age, and survival to advanced age. Osteogenesis imperfecta is classified into four types from the viewpoint of genogenesis: type 1 is autosomal dominant, blue sclera, and manifests only mild bone deformities; type 2 corresponds to the congenital type in the past; type 3 is the severe type, with many cases presenting delayed intrauterine development, fracture after the first birth, and clinically severe osteoarthritic deformities, manifested by blue sclera in infancy, and is not significant after childhood; patients of this type can generally survive until adulthood; type 4 is autosomal dominant, but without blue sclera, moderate osteoarticular deformity, although there is no intrauterine developmental delay, generally slow development and short stature. Repeated fractures are characteristic of osteogenesis imperfecta, with transverse and spiral fractures being the most common, and about 15% of fractures occurring in the epiphysis. Fractures can be followed by a large number of bone scabs, most of which can heal, but often with residual deformity. Ultrasonography: Early detection of congenital osteogenesis imperfecta is possible in the fetal skeletal system. experience of Garjian et al. shows that three-dimensional ultrasound is superior to two-dimensional ultrasound because of its ability to obtain three-dimensional anatomical localization, and the former is more likely to detect malformations of the head, face, and ribs. The disease is inherited in an autosomal dominant or recessive manner and can be a disseminated case, for which there is no effective prophylaxis. In severe cases, death occurs in utero or within 1 week of delivery. Most are due to intracranial hemorrhage, or to secondary infections. If survival for 1 month is possible, long-term survival is possible. In infancy, multiple fractures are the main difficulty in management. After puberty, the number of fractures gradually decreases. In women, the number of fractures tends to increase after menopause. Although fractures heal normally, there are many cases of pseudoarthrosis due to undetected or inappropriate treatment. Deformities of the pelvis can make childbirth difficult.