Summary
Incidences of dystopia canthorum and some other signs were studied in a family with Waardenburg syndrome type I. When “W” index was used as a diagnostic parameter, dystopia canthorum was expressed in 88% of the family members who exhibited one or more of the signs, whereas incidence of this trait was calculated to be 63% or less, when the other indices were employed. Incidences of the other signs ranged from 50% to 13%. These observations indicate that W index is the most sensitive indicator of dystopia canthorum, and that this characteristic is most frequently expressed among the signs of Waardenburg syndrome type I.
Similar content being viewed by others
Article PDF
References
Arias, S. 1971. Genetic heterogeneity in the Waardenburg syndrome.Birth Defects: Original Article Series 7: 87–101.
Arias, S. and Mota, M. 1978. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum.J. Genet. Hum. 26: 103–131.
Arias, S. 1980. Letter to the editor: Waardenburg syndrome—two distinct types.Am. J. Med. Genet. 6: 99–100.
Arias, S. 1984. Letter to the editor: Diagnosis and penetrance of dystopia canthorum in Waardenburg syndrome type (WS1).Am. J. Med. Genet. 17:863–865.
Cotterman, C.W. 1951. Some statistical problems posed by Waardenburg's data on dystopia canthorum and associated anomalies.Am. J. Hum. Genet. 3: 254–266.
De Saxe, M., Kromberg, J.G.R., and Jenkins, T. 1984. Waardenburg syndrome in South Africa. Part I. An evaluation of the clinical findings in 11 families.S. Afr. Med. J. 66: 256–261.
Hageman, M.J., and Delleman, J.W. 1977. Heterogeneity in Waardenburg syndrome.Am. J. Hum. Genet. 29: 468–485.
Preus, M., Linstrom, C., Polomeno, R.C., and Millot, J. 1983. Waardenburg syndrome—penetrance of major signs.Am. J. Med. Genet. 15: 383–388.
Waardenburg, P.J. 1951. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.Am. J. Hum. Genet. 3: 195–253.
Wang, D.H. 1972. Waardenburg syndrome.Leech 42: 23–27.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Yoshino, M., Nakao, M., Shiotsuki, Y. et al. Incidences of dystopia canthorum and some other signs in a family with Waardenburg syndrome type I. Jap J Human Genet 31, 373–378 (1986). https://doi.org/10.1007/BF01907938
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01907938