PMID: 16639267Apr 28, 2006Paper

The phenotype of the first otosclerosis family linked to OTSC5

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Robert J PauwC W Cremers

Abstract

To report the audiometric and radiologic findings in the first otosclerosis family linked to OTSC5. A clinical investigation of a family linked to OTSC5, including analyses of audiometric data and of high-resolution computed tomography (CT) images of the temporal bones from genetically affected family members. Tertiary referral center. Family members from a four-generation pedigree with otosclerosis segregating as an autosomal dominant trait. Pre-surgery pure tone audiometric data. Classification of otosclerotic foci on high-resolution spiral CT images of the temporal bones of genetically affected individuals. Audiometric data showed a considerable degree of phenotypic variability. Cross-sectional regression analysis did not disclose any clear age dependence of threshold-related data. Systematic differences between mean parameter values relating to the thresholds in the best or the worst ear were found. High-resolution CT images revealed a fenestral otosclerotic focus in seven of nine (78%) clinically affected individuals and cochlear foci in one of these seven patients. The phenotype of OTSC5 seems to be variable. Additional long-term audiometric data are needed to construct age-related typical audiograms, which may also facil...Continue Reading

References

Oct 1, 1989·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·M J McKenna, B G Mills
Apr 1, 1966·Archives of Otolaryngology·E P Fowler
Jun 1, 1967·The Annals of Otology, Rhinology, and Laryngology·F AltmannJ P Macduff
Aug 1, 1967·The Journal of Laryngology and Otology·M B Jorgensen, H K Kristensen
Jan 1, 1984·The Annals of Otology, Rhinology, and Laryngology·T J Yoo
Jan 1, 1984·The Annals of Otology, Rhinology, and Laryngology·G G Browning, S Gatehouse
Mar 21, 1998·Human Molecular Genetics·M S TomekR J Smith
Feb 15, 2001·American Journal of Human Genetics·K Van Den BogaertG Van Camp
Apr 13, 2001·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·R A Chole, M McKenna
Jul 13, 2001·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Y J ShinB Fraysse
Sep 25, 2001·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·F DeclauP Van de Heyning
Jul 13, 2002·Journal of Medical Genetics·W ChenR J H Smith
Apr 12, 2003·Clinical Otolaryngology and Allied Sciences·D J Menger, R A Tange
Jun 3, 2004·Journal of Medical Genetics·K Van Den BogaertG Van Camp
Sep 20, 2005·International Journal of Pediatric Otorhinolaryngology·Vassiliki IliadouMichael B Petersen

❮ Previous
Next ❯

Citations

Jun 15, 2007·American Journal of Medical Genetics. Part a·Robert Jan PauwCor W R J Cremers
Jun 24, 2009·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Melissa Thys, Guy Van Camp

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

The Laryngoscope
Nicole J D WeegerinkHenricus P M Kunst
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Vedat TopsakalP H Van de Heyning
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Jagdeep Singh VirkRavi Kumar Lingam
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Pedro Alberto EscadaJosé Francisco Madeira da Silva
© 2022 Meta ULC. All rights reserved