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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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References

Arriaga, M. A., Dindzans, L. J., Bluestone, C. D. (1990) Parotid duct communicating with labial pit and salivary cyst. Archives of Otolaryngology, Head and Neck Surgery 116: 1445–1447CrossRefGoogle ScholarPubMed
Cheney, M. L., Cheney, W. R., LeJeune, F. E. (1986) Familial incidence of labial pits. American Journal of Otolaryngology 7: 311–313CrossRefGoogle ScholarPubMed
Cremers, C. W. R. J., Fikkers-van Noord, M. (1980) The ear pits deafness syndrome. Clinical and genetic aspects. International Journal of Pediatric Otorhinolaryngology 2: 309–322CrossRefGoogle Scholar
Cremers, C. W. R. J., Thijssen, H. O. M., Fischer, A. J. E. M., Marres, E. H. M. A. (1981) Otological aspects of the ear pits deafness syndrome. ORL Journal Otorhinolaryngological Related Specimens 43: 223–239CrossRefGoogle Scholar
Cremers, C. W. R. J., Teunissen, E. (1991) The impact of a syndromal diagnosis on surgery for congenital minor ear anomalies. International Journal of Pediatric Otorhinolaryngology 22: 59–74CrossRefGoogle ScholarPubMed
Cremers, C. W. R. J., Marres, H. A. M., Brunner, H. G. (1993) Neooval window technique and myringo-chorda-vestibulopexy in the BOR syndrome. Laryngoscope 103: 1186–1189CrossRefGoogle ScholarPubMed
Dixon, M. J., Read, A. P., Donnai, D., Colley, A., Dixon, J., Williamson, R. (1991) The gene for Treacher-Collins syndrome maps to the long-arm of chromosome 5. American Journal of Human Genetics 49: 17–22Google Scholar
Kumar, S., Kimberling, W. J., Kenyon, J. B., Smith, R. J. H., Marres, H. A. M., Cremers, C. W. R. J. (1992) Autosomal dominant branchio- oto-renal syndrome - localization of a disease gene to chromosome 8q by linkage in a Dutch family. Human Molecular Genetics 1: 491–495CrossRefGoogle Scholar
Marres, H. A. M., Cremers, C. W. R. J. (1991) Congenital conductive or mixed deafness, pre-auricular sinus, external ear anomaly and commissural lip pits: an autosomal dominant inherited syndrome. Annals of Otorhinolaryngology 100: 928–932Google ScholarPubMed
Marres, H. A. M., Cremers, C. W. R. J., Marres, E. H. M. A., Vreugde, J. P. (1993) Ear surgery in the Treacher-Collins syndrome. Annals of Otology, Rhinology and Laryngology (submitted).Google Scholar
McKusick, V. A. (1992) Mendelian Inheritance in Man, 10th Edition, Vol. 1, Johns Hopkins University Press, Baltimore, pp 168, 169, 253, 694, 695.Google Scholar
Melnick, M., Bixle, D., Nance, W. E., Silk, K., Yune, H. (1976) Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clinical Genetics 9: 25–34CrossRefGoogle Scholar
Melnick, M., Hodes, M. E., Nance, W. E., Yune, H., Sweeney, A. (1978) Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. Clinical Genetics 13: 425–442CrossRefGoogle ScholarPubMed
Teunissen, B. (1992) Major and minor congenital anomalies of the ear. Classification and surgical results. Thesis, University of Nijmegen, The Netherlands, pp 57–74Google Scholar
Theunissen, E. J. J. M., Huygen, P. L. M., Folgering, H. T. (1986) Vestibular hyper-reactivity and hyperventilation. Clinical Otolaryngology 11: 161–169CrossRefGoogle Scholar
Van de Water, Th.R., Represa, J. (1991) Tissue interactions and growth factors that control development of the inner ear: neural tube-otic anlage interaction. Annals of New York Academy of Sciences 630: 116–128CrossRefGoogle ScholarPubMed
Won, K. H., Gayler, B. W., Shimizu, H. (1977) Genetic hearing loss with pre-auricular sinus and branchiogenic fistula. Archives of Otolaryngology, Head and Neck Surgery 103: 676–680CrossRefGoogle Scholar