Literature DB >> 8456822

Hearing loss and temporal bone structure in achondroplasia.

M Shohat1, E Flaum, S R Cobb, R Lachman, C Rubin, C Ash, D L Rimoin.   

Abstract

Characteristic temporal bone changes have recently been defined by high resolution CT in nine patients with achondroplasia (Cobb et al., Am J Neuroradiol 9:1195, 1988). These included narrowing of the skull base and "towering" petrous ridges resulting in abnormal orientation of the inner and middle ear structures. In order to determine whether these morphologic changes are the cause of the hearing deficit in achondroplasia, audiometric studies and ENT evaluation were performed in eight of the nine patients. All had a history of frequent otitis media and four had experienced tympanic membrane tube insertion. Three patients had significant sensorineural hearing loss, two had conductive hearing loss and one patient had combined hearing loss. None of the temporal bone morphologic changes were found to be correlated with the degree of either sensorineural or conductive hearing loss. Fusion of the ossicular chain was not present in any of our cases. Appropriate treatment of frequent acute otitis media and early awareness of middle ear effusions and conductive hearing loss in children with achondroplasia may be of great importance in preventing permanent hearing loss.

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Year:  1993        PMID: 8456822     DOI: 10.1002/ajmg.1320450504

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

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Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

2.  Bilateral ossiculoplasty in 1 case of achondroplasia.

Authors:  Jongyoon Jung; Chulwon Yang; Sunkyu Lee; June Choi
Journal:  Korean J Audiol       Date:  2013-12-13

3.  Hearing loss in a mouse model of Muenke syndrome.

Authors:  Suzanne L Mansour; Stephen R F Twigg; Rowena M Freeland; Steven A Wall; Chaoying Li; Andrew O M Wilkie
Journal:  Hum Mol Genet       Date:  2008-09-25       Impact factor: 6.150

4.  Hearing loss in osteogenesis imperfecta: characteristics and treatment considerations.

Authors:  Joseph P Pillion; David Vernick; Jay Shapiro
Journal:  Genet Res Int       Date:  2011-12-14
  4 in total

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