Osteogenesis Imperfecta and Basilar Invagination

Osteogenesis imperfecta (OI) was first reported to be linked to basilar impression in 1942. Secondary basilar impression results from skeletal diseases and resultant bone softening, as is frequently seen in OI, Paget disease, Hurler syndrome, hyperparathyroidism, osteomalacia, Hajdu-Cheney syndrome and achondroplasia. The majority of OI patients with basilar invagination (BI) present with severe physical disability and advanced symptomatic BI. Several radiological modalities are utilized to confirm the diagnosis and aid in pre-operative planning. The general goals of nonsurgical management in OI are to decrease the incidence of fractures and increase mobility and independence. If symptomatic BI is present, however, only surgical decompression and stabilization can halt the progression of deficits and potentially reverse them. In this chapter, we outline a review of the diagnosis, management and outcome for patients with OI and BI.