Original Research
Waardinburg syndrome — inherited deafness with pigmentary involvement
Curationis | Vol 2, No 3 | a485 |
DOI: https://doi.org/10.4102/curationis.v2i3.485
| © 1979 M.F. Macrae
| This work is licensed under CC Attribution 4.0
Submitted: 27 September 1979 | Published: 27 September 1979
Submitted: 27 September 1979 | Published: 27 September 1979
About the author(s)
M.F. Macrae, Department of human genetics, medical school, University of Cape Town., South AfricaFull Text:
PDF (255KB)Abstract
The Waardenburg syndrome was first clearly defined in 1951. The major clinical importance lies in the fact that about 20% of affected individuals are deaf. Furthermore, because the condition is inherited autosomal dominantly, there is a risk of the disorder being handed down from generation to generation. The syndrome consists of six major features which may appear in any combination and to any degree in the affected individual.
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