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Congenital hearing loss in patients with Cornelia de Lange syndrome

A report of two cases

Published online by Cambridge University Press:  29 June 2007

Elisabeth P. Egelund*
Affiliation:
Department of Audiology, Roskilde county hospital, Denmark.
*
Magdelonevej 21, DK-2400 København NV, Copenhagen, Denmark.

Abstract

Two children with a congenital Cornelia de Lange syndrome and a verified sensorineural hearing loss are presented. One could be tested by conventional audiometry, the other only with the help of the newer computerized electronic methods. A short review of some earlier reports on congenital hearing loss in this syndrome is made.

Type
Clinical Records
Copyright
Copyright © JLO (1984) Limited 1987

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References

Abraham, J. M. and Russell, A. (1968) De Lange syndrome. A study of 9 examples. Acta paediatrica scandinavica, 57: 339353.Google Scholar
Beck, B. (1974) Familial occurrence of Cornelia de Lange's syndrome. Acta paediatrica scandinavica, 63: 225231.CrossRefGoogle ScholarPubMed
Beck, B. (1976) Epidemiology of Cornelia de Lange's syndrome. Acta paedialrica scandinavica, 65: 631638.CrossRefGoogle ScholarPubMed
Beck, B. and Mikkelsen, M. (1981) Chromosomes in the Cornelia de Lange's syndrome. Human genetics, 59: 271276.CrossRefGoogle Scholar
Begeman, G. and Duggan, R. (1976) The Cornelia de Lange syndrome. A study of 9 affected individuals. South African Medical Journal, 50: 14751478.Google Scholar
Beratis, N., Hsu, L. Y. F. and Hirschhorn, K. (1971) Familial de Lange syndrome. Clinical genetics, 2: 170176.Google Scholar
Breslau, E. J., Disteche, C., Hall, J. G, Thuline, H. and Cooper, P. (1981) Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome. American Journal of Medical Genetics, 10: 179186.Google Scholar
Carakushansky, G. and Berthier, C. (1976) The de Lange syndrome in one of twins. Journal of Medical Genetics, 13(5): 404406.Google Scholar
Falek, A., Schmidt, R. and Jervis, G. A. (1966) Familial de Lange syndrome with chromosome abnormalities. Pediatrics, 3(1): 92101.CrossRefGoogle Scholar
Francke, U. and Opitz, J. M. (1979) Chromosome 3q duplication and the Brachmann-de Lange syndrome. The Journal of Pediatrics, 95(1): 161163.CrossRefGoogle ScholarPubMed
Fraser, W. I. and Campbell, B. M. (1978) A study of six cases of de Lange Amsterdam dwarf syndrome with special attention to voice, speech and language characteristics. Developmental Medicine and Child Neurology, 20: 189198.CrossRefGoogle Scholar
Halal, F. and Preus, M. (1979) The hand profile in the de Lange syndrome: Diagnostic criteria. American Journal of Medical Genetics, 3: 317323.CrossRefGoogle Scholar
Hart, Z. H., Jaslow, R. I. and Gomez, M. R. (1965) The de Lange syndrome. American Journal of Diseases of Children, 109: 325332.Google Scholar
Joubin, J., Pettrone, C. F. and Pettrone, F. A. (1982) Cornelia de Lange syndrome. Clinical Orthopaedics and Related Research, 171: 180185.Google Scholar
Lachmann, R., Funamura, J. and Szalay, G. (1981) Gastrointestinal abnormalities in the Cornelia de Lange syndrome. The Mount Sinai Journal of Medicine, 48: 236240.Google Scholar
McArthur, R. G. and Edwards, J. H. (1967) De Lange syndrome: Report of 20 cases. The Canadian Medical Association Journal, 96(17): 11851198.Google Scholar
McIntire, M. S. and Eisen, J. D. (1965) The Cornelia de Lange syndrome—A case report with mild mental retardation. American Journal of Mental Deficiency, 70: 438442.Google Scholar
Moore, M. V. (1970) Speech, hearing and language in the de Lange syndrome. Journal of Speech and Hearing Disorders, 35: 6669.Google Scholar
Opitz, J. M. and Groose, F. R. (1971) In Yearbook of pediatrics (Gellis, S. S., ed.), pp. 486491, Chicago Year Book Medical Publishers Inc.Google Scholar
Opitz, J. M. and Smith, D. W. (1966) Familial de Lange syndrome with chromosome abnormalities. Pediatrics, 37: 10281029.Google ScholarPubMed
Peeters, F. L. M. (1975) Radiological manifestations of the Cornelia de Lange syndrome. Pediatric Radiology, 3: 4146.Google Scholar
Preus, M. and Fraser, F. C. (1976) A methodology for establishing a diagnostic index for syndromes of unknown aetiology. Clinical Genetics, 10: 249259.CrossRefGoogle Scholar
Preus, M. and Rex, A. P. (1983) Definition and diagnosis of the Brachmann-de Lange syndrome. American Journal of Medical Genetics, 16: 301312.Google Scholar
Ptacek, L. J., Opitz, J. M., Smith, D. W., Gerritsen, T. and Waisman, H. A. (1963) The Cornelia de Lange syndrome. The Journal of Pediatrics, 63: 10001020.CrossRefGoogle ScholarPubMed
Silver, H. K. (1964) The de Lange syndrome. American Journal of Diseases of Children, 108: 523529.Google Scholar
Steinbach, P. et al. (1981) The dup (3q) syndrome: Report of eight cases and review of the literature. American Journal of Medical Genetics, 10: 159177.Google Scholar
Watson, A. (1979) Cornelia de Lange syndrome: Occurrence in twins. Australia Journal of Dermatology, 20: 79.CrossRefGoogle ScholarPubMed