Rieger syndrome is a dysembryogenetic disease in which labyrinthic damage can be associated with other genetic anomalies. The case presented here is of a patient who has bilateral dysgenesis of the iris, with bulbar atrophy and dyscoria. The patient does not present any malformation of the craniofacial structures, of the periumbilical skin, or of the skeletal bones.
View Article and Find Full Text PDFThe Wolfram syndrome is a rare dysmorphogenetic disease of autosomic recessive hereditary nature. The pathogenesis of the disease is still not well known. It is characterised by the presence of diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
View Article and Find Full Text PDFActa Otorhinolaryngol Ital
April 2001
Background: Presbyacusis, or age-related hearing loss, has become a problem of increasing social interest due to the rise in the mean age of the population. Investigations performed to date have generally been carried out with the aid of self-reporting questionnaires, without the support of objective findings.
Objective: The purpose of this study was to analyze an extensive series of elderly people from different areas of the Veneto region to obtain an epidemiological descriptive analysis, as detailed as possible, of their presbyacusis, considering their hearing thresholds at various frequencies, distinguishing findings according to sex and age in classes and the geographical area where the survey was performed.