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Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment

In Bruck syndrome, patients have fragile bones and multiple fractures, as in OI, but bone fragility is associated with the unusual fi nding of pterygia and contractures of large joints. Typical radiological fi ndings are wormian bones in the skull, generalized osteopenia, bowing of long bones and multiple fractures, as in OI. Bruck syndrome can be distinguished from OI by the presence of clubfoot and congenital joint limitations and the absence of hearing loss and dentinogenesis imperfecta. Here we present the results of i.v. cyclic pamidronate treatment for bone fragility in a patient with Bruck syndrome. The same patient had been reported previously because a recessive mutation in PLOD2 gene was demonstrated, which is important for collagen cross-links. 2 While the patient was under pamidronate treatment for initial diagnosis of osteogenesis imperfecta, diagnosis of Bruck syndrome became defi nite. This is the only patient with Bruck syndrome reported in the literature who was treated with pamidronate for bone fragility.