PubMed · 10704185
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W J Kimberling. 1999-09-24. Hereditary deafness.. https://doi.org/10.1002/(sici)1096-8628(19990924)89%3A3%3C121%3A%3Aaid-ajmg1%3E3.0.co%3B2-u
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Imaging of the window of the temporal bone has became an important tool in the analysis of hearing loss, vertigo, tinnitus in a context of trauma, malformation, otosclerosis, and chronic otitis media. A good knowledge of the anatomy and a good technical procedure are necessary for making an efficient diagnosis. The increased thickness of the footplate may be delineated in otosclerosis, chronic otitis media, malformation, when it is measured at 0.7 mm or more in horizontal computed tomography (CT) sections. The traumatic displacement of the stapes, particularly within the labyrinths, is easily diagnosed in horizontal CT section. Imaging of the round window is now very important for the detection of otosclerotic foci, congenital stenosis, and perilymphatic fistula with or without fracture. Magnetic resonance imaging (MRI) with the high-resolution T2 plays an important role in the detection of a small amount of fluid in the round window recess, confirming the traumatic perilymphatic fistula without fracture.
Dentinogenesis imperfecta (DGI) is characterized by discolored teeth with an opalescent sheen and dentin that fails to support enamel, causing it to easily chip. Two new studies show that DGI is associated with mutations in DSPP, a gene encoding dentin sialophosphoprotein that is processed into two proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). These are key components of the dentin extracellular matrix (DECM). Notably, missense mutations in DSPP are also associated with progressive hearing loss.