Braz J Otorhinolaryngol
November 2009
Unlabelled: Alport Syndrome (AS) is a hereditary disease, characterized by nephropathy, often times with sensorineural hearing loss and ocular defects.
Aim: to analyze the clinical and hearing information from individuals with AS, more specifically the correlation between renal disorder and hearing loss (HL).
Study Design: clinical prospective with cross-sectional cohort.
Braz J Otorhinolaryngol
December 2007
Aim: To develop a screening in order to determine the more common syndromic and non-syndromic genetic SNHL, considering epidemiological data, information and the development of new technologies; clinical implications and bioethical issues.
Materials And Methods: We reviewed the literature in order to develop a screening that includes: history, patterns of inheritance, physical evaluation, laboratory tests, image studies, multidisciplinary approaches and genetic tests.
Conclusion: The epidemiologic data estimates that at least 50% of prelingual HL can be determined by genetic alterations.