Zeitschrift für Kinderheilkunde

, Volume 109, Issue 1, pp 70–75 | Cite as

Cockayne's syndrome

Report of a case with normal intelligence
  • M. Lanning
  • S. Similä
Article

Abstract

The patient discussed is a seven year old boy with Cockayne's syndrome, deafness, retinal “salt and pepper”-like abnormalities, microcephaly, retarded growth and abnormal appearance, but normal intelligence. This suggests that mental retardation is not inevitably associated with Cockayne's syndrome.

Key-Words

Deafness Cockayne's Syndrome Retinal Degeneration 

Zusammenfassung

Ein siebenjähriger Knabe mit dem Syndrom Cockayne mit Taubheit, der retinalen „Salz und Pfeffer”-Degeneration, Mikrocephalus, Wachstumsverzögerung und dem abnormalen Aussehen, aber mit einer normalen Intelligenz. Dieses läßt annehmen, daß die mentale Retardierung nicht absolut zu dem Syndrom gehört.

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References

  1. Civantos, F.: Human chromosomal abnormalities. Bull. Tulane med. Fac. 20, 241–253 (1961).Google Scholar
  2. Cockayne, E. A.: Dwarfism with retinal atrophy and deafness. Arch. Dis. Childh. 11, 1–8 (1936).Google Scholar
  3. —: Case reports: Dwarfism with retiral atrophy and deafness. Arch. Dis. Childh. 21, 52–54 (1946).Google Scholar
  4. Coles, W. H.: Ocular manifestations of Cockayne's syndrome. Amer. J. Ophthal. 67, 762–764 (1969).Google Scholar
  5. Fujimoto, W. Y., Greene, M. L., Seegmiller, J. E.: Cockayne's syndrome: Report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease and normal growth hormone. J. Pediat. 75, 881–884 (1969).Google Scholar
  6. Guzzetta, F.: La sidrome di Cockayne: Descrizione di un caso. Minerva pediat. 19, 891–895 (1967).Google Scholar
  7. Hallgren, B.: Retinitis pigmentosa combined with congenital deafness, with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases. Acta psychiat. scand. 34, Suppl. 138 (1959).Google Scholar
  8. Lieberman, W. J., Schimek, R. A., Snyder, C. H.: Cockayne's disease. Amer. J. Ophthal. 52, 116–118 (1961).Google Scholar
  9. Macdonald, W. B., Fitch, K. D., Levis, I. C.: Cockayne's syndrome: An heredofamilial disorder of growth and development. Pediatrics 25, 997–1007 (1960).Google Scholar
  10. Neill, C. A., Dingwall, M. M.: A syndrome resembling progeria: A review of two cases. Arch. Dis. Childh. 25, 213–223 (1950).Google Scholar
  11. Ohno, T., Hirooka, M.: Renal lesions on Cockayne's syndrome. Tohoku J. exp. Med. 89, 151–166 (1966).Google Scholar
  12. Paddisen, R. M., Moossy, J., Derbes, V. J., Kloepfer, W.: Cockayne's syndrome. Derm. int. 2, 195–203 (1963).Google Scholar
  13. Pashayan, H., Whelan, D., Guttman, S., Fraser, F. C.: Variability of the de Lange syndrome: Report of 3 cases and genetic analysis of 54 families. J. Pediat. 75, 853–858 (1969).Google Scholar
  14. Schönenberg, H., Frohn, K.: Das Cockayne-Syndrom. Mschr. Kinderheilk. 117, 103–108 (1969).Google Scholar
  15. Tympner, K. D., Eichin, F., Fendel, H.: Cockayne's syndrome. Z. Kinderheilk. 104, 298–307 (1968).Google Scholar
  16. Wilkins, L.: The diagnosis and treatment of endocrine disorders in childhood and adolescence, Ed. 3, pp. 168 and 192. Springfield (Ill.): Thomas 1965.Google Scholar

Copyright information

© Springer-Verlag 1970

Authors and Affiliations

  • M. Lanning
    • 1
  • S. Similä
    • 1
  1. 1.Department of PediatricsUniversity of OuluOuluFinland

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