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.
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.
Similar content being viewed by others
References
Civantos, F.: Human chromosomal abnormalities. Bull. Tulane med. Fac. 20, 241–253 (1961).
Cockayne, E. A.: Dwarfism with retinal atrophy and deafness. Arch. Dis. Childh. 11, 1–8 (1936).
—: Case reports: Dwarfism with retiral atrophy and deafness. Arch. Dis. Childh. 21, 52–54 (1946).
Coles, W. H.: Ocular manifestations of Cockayne's syndrome. Amer. J. Ophthal. 67, 762–764 (1969).
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).
Guzzetta, F.: La sidrome di Cockayne: Descrizione di un caso. Minerva pediat. 19, 891–895 (1967).
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).
Lieberman, W. J., Schimek, R. A., Snyder, C. H.: Cockayne's disease. Amer. J. Ophthal. 52, 116–118 (1961).
Macdonald, W. B., Fitch, K. D., Levis, I. C.: Cockayne's syndrome: An heredofamilial disorder of growth and development. Pediatrics 25, 997–1007 (1960).
Neill, C. A., Dingwall, M. M.: A syndrome resembling progeria: A review of two cases. Arch. Dis. Childh. 25, 213–223 (1950).
Ohno, T., Hirooka, M.: Renal lesions on Cockayne's syndrome. Tohoku J. exp. Med. 89, 151–166 (1966).
Paddisen, R. M., Moossy, J., Derbes, V. J., Kloepfer, W.: Cockayne's syndrome. Derm. int. 2, 195–203 (1963).
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).
Schönenberg, H., Frohn, K.: Das Cockayne-Syndrom. Mschr. Kinderheilk. 117, 103–108 (1969).
Tympner, K. D., Eichin, F., Fendel, H.: Cockayne's syndrome. Z. Kinderheilk. 104, 298–307 (1968).
Wilkins, L.: The diagnosis and treatment of endocrine disorders in childhood and adolescence, Ed. 3, pp. 168 and 192. Springfield (Ill.): Thomas 1965.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Lanning, M., Similä, S. Cockayne's syndrome. Z. Kinder-Heilk. 109, 70–75 (1970). https://doi.org/10.1007/BF00443496
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00443496