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Hearing loss in the Saethre-Chotzen syndrome

Published online by Cambridge University Press:  29 June 2007

Robbert J. H. Ensink ,
Henri A. M. Marres ,
Han G. Brunner  and
Cor W. R. J. Cremers
Robbert J. H. Ensink
Affiliation:
Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands
Henri A. M. Marres*
Affiliation:
Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands
Han G. Brunner
Affiliation:
Department of Human Genetics, University Hospital Nijmegen, The Netherlands
Cor W. R. J. Cremers
Affiliation:
Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands
*
Address for correspondence: Dr H. A. M. Marres, Department of Otorhinolaryngology, University Hospital Nijmegen, P. O. Box 9101, 6500 HB Nijmegen, The Netherlands. Fax: 00-31-24-3540251
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Abstract

A three-generation family with Saethre-Chotzen syndrome and an isolated case are presented. The proband presented with conductive hearing loss. His mother and grandmother showed minor features of the syndrome including conductive hearing loss.

Symptoms of the craniosynostosis syndromes can include stapes ankylosis, a fixed ossicular chain in a too small epitympanum, and small or even absent mastoids. The proband was treated with a boneanchored hearing aid (BAHA) instead of reconstructive middle ear surgery. Current literature on the results of ear surgery is reviewed. In general, reconstructive middle ear surgery should only be considered if congenital anomalies of the middle ear are the only presenting symptom. In cases with additional anomalies such as atresia of the ear canal or damage due to chronic ear infections, the outcome of reconstructive surgery to correct the anomalous ossicular chain is unsatisfactory. In such cases the BAHA is probably the best solution.

Keywords

Hearing loss, conductive, geneticSaethre-Chotzen syndromeHearing aid, bone-anchored
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 110 , Issue 10 , October 1996 , pp. 952 - 957
Copyright
Copyright © JLO (1984) Limited 1996

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