Otosclerosis is an early-middle adult life genetic disease affecting bone remodelling in the ear. Current knowledge of otosclerosis as an inherited disease dates to the mid-19th century, and we report here an attempt to understand the genetics of otosclerosis and detect its heterogeneity. The analysis was conducted on 151 otosclerotic families. The results of our study indicate that while heredity plays an important role in the manifestation of the disease a substantial portion of otosclerotic cases could arise due to non-genetic causes.

High-resolution, tympano-cochlear scintigraphy (TCS) is a useful tool for visualizing changes in labyrinthine bone metabolism in active otosclerosis in vivo. But until now, the activity patterns have mostly been rather imprecisely ascribed to the labyrinthine structures; more exactly by means of high- resolution CT (HR-CT). Experimental studies on TCS using a human temporal bone model revealed that correlative imaging of X-ray photographs and the scintigrams or superimposition with masks of the temporal bone drawn from the X-rays can facilitate the localization of small foci of about 0.5–1 mm.

Clinical applications of the visualization technique, combining functional with structural images, confirmed the benefit of this method, improving the accuracy in detection and localization of focal activity enrichment of the petrous bone in cases of active otosclerosis by means of TCS.

The purpose of this investigation was to establish the incidence of clinical otoscierosis and auditory exostoses in Lithuanian paleopopulations. The total sample consists of 4080 skulls, dating from the Neolithic to the C 17th—C 18th a.d., investigated visually, under magnification and radiologically. Eight cases of clinical otosclerosis and 22 of auditory exostoses were identified. The general epidemiology of otosclerosis (0.19 ± 0.08 per cent) was established to be similar to contemporary populations. This suggests that there are no new aetiological factors attributable to our modern society. Clear diminution of the incidence of auditory exostoses from the 1st to the 2nd millenium A.D. (3.46 ± 0.76 per cent, against 0.06 ± 0.04 per cent, p <0.001) and definite sexual differences (males: 1.21 ± 0.28 per cent; females: 0.17 ± 0.10 per cent, p<0.001) were also noted. In general, auditory exostoses were found much more frequently than in recent populations.