Literature DB >> 8084622

Hearing loss in Townes-Brocks syndrome.

D R Rossmiller1, T R Pasic.   

Abstract

Townes-Brocks syndrome is an autosomal dominant syndrome consisting of anomalies affecting the ear, hand, foot, anus, and kidney. Anomalies affecting the ear include lop ear, preauricular skin tags, ossicular abnormalities, and a mixed hearing loss. The hearing loss in Townes-Brocks syndrome is predominantly sensorineural, affects high-frequency thresholds more than low-frequency thresholds, and has a variable (usually small) conductive component. The sensorineural component of the hearing loss is slowly progressive. It is typically in the mild range (20 to 40 dB hearing level) during early childhood and progresses to the moderate hearing loss range (40 to 60 dB hearing level) by early adulthood. We present a description of the otologic manifestations and an analysis of audiologic findings in six members of a family with Townes-Brocks syndrome.

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Year:  1994        PMID: 8084622     DOI: 10.1177/01945998941113P103

Source DB:  PubMed          Journal:  Otolaryngol Head Neck Surg        ISSN: 0194-5998            Impact factor:   3.497


  4 in total

Review 1.  Townes-Brocks syndrome.

Authors:  C M Powell; R C Michaelis
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

2.  Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Authors:  J Kohlhase; P E Taschner; P Burfeind; B Pasche; B Newman; C Blanck; M H Breuning; L P ten Kate; P Maaswinkel-Mooy; B Mitulla; J Seidel; S J Kirkpatrick; R M Pauli; D S Wargowski; K Devriendt; W Proesmans; O Gabrielli; G V Coppa; E Wesby-van Swaay; R C Trembath; A A Schinzel; W Reardon; E Seemanova; W Engel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

3.  Analysis of FGF20-regulated genes in organ of Corti progenitors by translating ribosome affinity purification.

Authors:  Lu M Yang; Lisa Stout; Michael Rauchman; David M Ornitz
Journal:  Dev Dyn       Date:  2020-07-10       Impact factor: 3.780

4.  Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.

Authors:  P D Si Dong; Sokol V Todi; Daniel F Eberl; Grace Boekhoff-Falk
Journal:  Proc Natl Acad Sci U S A       Date:  2003-08-18       Impact factor: 11.205

  4 in total

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