Sammanfattning
Osteogenesis imperfecta (OI) is an inherited, rare connective tissue
disorder leading to bone fragility and hence an increased risk
of bone fractures and a number of other symptoms related to the
connective tissue, including risk of dentinogenesis imperfecta (DI).
The diagnosis DI is based on clinical findings and radiographic
characteristics as a consequence of defective dentine. DI can appear
as isolated DI or as a part of OI. OI is a clinical diagnosis,
however both OI and DI can be confirmed by genetic analyses.
Follow-up and treatment of OI and DI take place at specialized
centers with special knowledge and expertise on rare inherited
disorders.
This article describes investigations, follow-up and treatment of
DI and OI in a field where special attention and increased cooperation
between medical physicians and dentists are of major
importance.