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The deafness, pre-auricular sinus, external ear anomaly and commissural lip pits syndrome – otological, vestibular and radiological findings

Published online by Cambridge University Press:  29 June 2007

H. A. M. Marres ,
C. W. R. J. Cremers ,
P. L. M. Huygen  and
F. B. M. Joosten
H. A. M. Marres*
Affiliation:
Department of Otorhinolaryngology, University Hospital, Nijmegen, The Netherlands.
C. W. R. J. Cremers
Affiliation:
Department of Otorhinolaryngology, University Hospital, Nijmegen, The Netherlands.
P. L. M. Huygen
Affiliation:
Department of Otorhinolaryngology, University Hospital, Nijmegen, The Netherlands.
F. B. M. Joosten
Affiliation:
Department of Radiodiagnosis, University Hospital, Nijmegen, The Netherlands.
*
H. A. M. Marres, Department of Otorhinolaryngology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
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Abstract

Commissural lip pits, pinna dysplasia, pre-auricular sinus and hearing loss constitute a recently described autosomal dominant branchial arch syndrome. In a large family, eight out of the 74 members were also affected by conductive hearing loss. No inner ear abnormalities could be demonstrated on the CT scans. In three patients (four ears) out of four patients (six ears), exploratory tympanotomy revealed serious ossicular chain anomalies. In one ear, round window aplasia was also present. Long-term hearing improvement could only be achieved in one ear.

Keywords

Deafness, congenitalChromosome abnormalities, auto-somal dominanceHearing loss, conductiveBranchial region
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 108 , Issue 1 , January 1994 , pp. 13 - 18
Copyright
Copyright © JLO (1984) Limited 1994

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