ABSTRACT
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).
Subject(s)
Osteogenesis Imperfecta/complications , Temporomandibular Joint Disorders/etiology , Temporomandibular Joint/pathology , Adolescent , Humans , Male , Malocclusion, Angle Class III/etiology , Mandible/physiopathology , Osteogenesis Imperfecta/pathology , Osteogenesis Imperfecta/physiopathology , Temporomandibular Joint/diagnostic imaging , Temporomandibular Joint Disorders/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
OBJECTIVES: To describe a case of mandibular condyle intrusion into the middle cranial fossa in a young child and to systematically review the literature pertaining to this condition. STUDY DESIGN: The diagnostic procedures comprised clinical examination, health history, and both magnetic resonance imaging and computerized tomography. A systematic review of the literature from PubMed, Medline, and Web of Science databases from 1960 to 2005 was made and a total of 55 cases in 51 references were found, of which 36 were described in detail. CONCLUSIONS: Prompt diagnosis of mandibular condyle intrusion into the middle cranial fossa is essential to minimize complications. Advanced imaging modalities of computed tomography and magnetic resonance imaging are indicated.
