Anatomic and dynamic aspects of stomatognathic structures in osteogenesis imperfecta: a case report.

The osteogenesis imperfecta congenita (OMIM 166210) type II phenotype can be caused by mutation in either the COL1A1 gene or the COL1A2 gene that encode the chains of type I procollagen, the major protein in bones. Patients can therefore present a combination of features, including multiple long bone fractures and deformities, growth deficiency, joint laxity, hearing loss, blue sclera, and dentinogenesis imperfecta. The purpose of this study is to describe a clinical case of this syndrome, focusing on the anatomy of the temporomandibular joint (TMJ) that was assessed using computed tomography (CT) method. Clinical examination included evaluation of mandibular dynamics and investigation of temporomandibular dysfunction (TMD).