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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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References

Aase, J., Smith, D. (1970) Facial asymmetry and abnormalities of palms and ears. A dominantly inherited developmental syndrome. Journal of Pediatrics 6: 928–930.CrossRefGoogle Scholar
Bergström, L., Neblett, L., Hemenway, G. (1972) Otologic manifestations of craniosynostosis syndromes. Archives of Otolaryngology, Head and Neck Surgery 96: 117–123.CrossRefGoogle Scholar
Boedts, D. (1967) La surdité dans la dysostose craniofaciale ou maladie de Crouzon. Acta Oto-Rhino-Laryngologica Belgica 21: 43–55.Google Scholar
Brueton, L., Herwerden van, L., Chotai, K., Winter, R. (1992) The mapping of a gene for craniosynostosis: Evidence for linkage of Saethre-Chotzen syndrome to distal chromosome 7p. Journal of Medical Genetics 21: 681–685.CrossRefGoogle Scholar
Cantrell, S., Moore, M., Trott, J., Morris, R., David, D. (1994) Phenotypic variation in acrocephalosyndactyly syndromes: Unusual findings in patients with features of Apert and Saethre-Chotzen syndromes. Craniofacial Cleft-Palate Journal 31: 487–493.CrossRefGoogle ScholarPubMed
Carter, C., Till, K., Fraser, V., Coffey, R. (1982) A family study of craniosynostosis with probable recognition of a distinct syndrome. Journal of Medical Genetics 19: 280–285.CrossRefGoogle ScholarPubMed
Chotzen, F. (1932) Eine eigenartige Entwicklungsstbrung (Acrocephalosyndactylie, Dysosotosis craniofacialis und Hypertelorismus. Monatschrift für Kinderheilkunde 55: 97–122.Google Scholar
Corey, J., Caldarelli, D., Gould, H. (1987) Otopathology in cranial facial dysostosis. American Journal of Otolaryngology 8:14–17.Google ScholarPubMed
Cremers, C. (1981) Hearing loss in Pfeiffer syndrome. International Journal of Pediatric Otorhinolaryngology 3: 343–353.CrossRefGoogle Scholar
Cremers, C., Teunissen, E. (1991) The impact of a syndromal diagnosis on surgery for congenital minor ear anomalies. International Journal of Pediatric Otorhinolaryngology 22: 159–174.CrossRefGoogle ScholarPubMed
Friedman, J., Hanson, J., Graham, C., Smith, D. (1977) Saethre-Chotzen syndrome: A broad and variable pattern of skeletal malformations. Journal of Pediatrics 12: 929–933.CrossRefGoogle Scholar
Fryns, J., Vogels, A., Van den Berghe, H. (1990) Craniosynostosis and low middle frequency perceptive deafness in mother and son. A distinct entity?. Genetic Counselling 1: 63–66.Google ScholarPubMed
Gorlin, R., Torielo, H., Cohen, M. (1995) Hereditary hearing loss and its syndromes. The Saethre-Chotzen syndrome. 1st Edition. Oxford University Press, New York pp 174–175.Google Scholar
Gould, H., Caldarelli, D. (1982) Hearing and otopathology in Apert syndrome. Archives of Otolaryngology, Head and Neck Surgery 108: 347–350.CrossRefGoogle ScholarPubMed
Kopysc, Z., Stanska, M., Ryszko, J., Kulckzyk, B. (1980) The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Human Genetics 56: 195–204.CrossRefGoogle ScholarPubMed
Kreiborg, S. (1981) Crouzon syndrome. Scandinavian Journal of Plastic and Reconstructive Surgery (Suppl 18): 1–109.Google ScholarPubMed
Kurczinsky, T. W., Casperson, S. M. (1988) Auralcephalosyndactyly: A new hereditary craniosynostosis syndrome. Journal of Medical Genetics 25: 491–493.CrossRefGoogle Scholar
Legius, E., Fryns, J., Berghe van den, H. (1989) Auralcephalosyndactyly: a new craniosynostosis syndrome or variant of the Saethre-Chotzen syndrome? Journal of Medical Genetics 28: 522–524.CrossRefGoogle Scholar
Marini, R., Temple, K., Chitty, L., Genet, S., Baraitser, M. (1991) Pitfalls in counselling; the craniosynostoses. Journal of Medical Genetics 28: 117–121.CrossRefGoogle ScholarPubMed
McKusick, V. A. (1992) Catalogue of Autosomal Dominance, Autosomal Recessive and X-linked Phenotypes. XII Edition. John Hopkins Press, Baltimore, pp 14–15.Google Scholar
Pantke, O., Cohen, M., Witkop, C., Murray Feingold, M., Schaumann, B., Pantke, H., Gorlin, R. (1975) The Saethre-Chotzen syndrome: Birth Defects: Original Article Series. Vol. XI, no. 2, The Williams and Wilkins Company, Baltimore, pp 190–225.Google Scholar
Peterson-Falzone, S., Pruzansky, S., Parris, P., Laffer, J. (1981) Nasopharyngeal dysmorphology in the syndromes of Apert and Crouzon. Cleft Palate Journal 18: 237–250.Google ScholarPubMed
Phillips, S., Miyamoto, R. (1986) Congenital conductive hearing loss in Apert syndrome. Archives of Otolaryngology, Head and Neck Surgery 95: 429–433.CrossRefGoogle ScholarPubMed
Saethre, H. (1931) Ein beitrag zum Turmschädelproblem (Papathogenese, Erblichkeit und Symptomatologie). Deutsch Zeitschrift Nervenheilkunde 117: 533–543.CrossRefGoogle Scholar