Imperfect osteogenesis is a hereditary defect of collagen, leading to diffuse anomalous fragility of bone tissue and sometimes accompanied by sensorineural deafness, blue sclera, imperfect dentinogenesis and hypermobility of joints.
There are 4 main types of osteogenesis imperfecta; I and IV types are inherited in an autosomal dominant type, while types II and III are inherited in an autosomal recessive type. Other types are rare. The diagnosis is usually clinical, but there are no standardized criteria. Type I procollagen analysis in fibroblast cultures or sequence analysis of the COL1a1 and COL1A2 genes can be used if the clinical diagnosis is unreliable.
Type I is the easiest. Symptoms and signs in some patients are limited to blue sclera and musculoskeletal pain due to hypermobility of the joints.
Type II is the heaviest. Sclera blue. Some babies also experience hearing loss, probably due to otosclerosis, caused by an abnormality of the connective tissue around the auditory ossicles. Skull bones are soft.Since the bones of the skull are soft, injury during childbirth can lead to intracranial hemorrhage and stillbirth or sudden death of a newborn during the first days or weeks of life.
Ill and IV types are intermediate in severity. Survival is high. Accurate diagnosis is important, as in such patients treatment can be effective. Intravenous administration of bisphosphonates can increase bone density and reduce bone pain and fracture rates. Preliminary evidence suggests that oral alendronate is also effective. Orthopedic surgery, physiotherapy and occupational therapy help prevent fractures and improve function.
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