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Waardenburg's Syndrome in Six Generations of One Family

Waardenburg's Syndrome in Six Generations of One Family Abstract Introduction SINCE Waardenburg's description in 19501 of a syndrome characterized by certain congenital abnormalities affecting the eyelids, in association with pigmentary defects in the irides and congenital deafness, increasing recognition of this condition has occurred in the foreign literature. At present, case reports come from England, Canada, Scandinavia, the Netherlands, South Africa, Germany, Israel, India, New Zealand, and Japan. In this country, Di George et al2 in 1960, for the first time, brought this little known syndrome to the attention of the American readers. A discovery of a family with Waardenburg's syndrome by one of us in 1963 prompted a search for additional cases in the American journals. A review at that time disclosed only one other paper, written by Stettelmayer and Hogan and published in 1961.3 It was their purpose to show that Waardenburg's syndrome could occur in a patient of mixed American heritage. Our reasons References 1. Waardenburg, P. J.: New Syndrome, Acta XVI Concilium Opthalmologicum (Britannia) 1950, (from DiGeorge, Olmsted and Harley). 2. Di George, A. M.; Olmsted, R. W.; and Harley, R. D.: Waardenburg's Syndrome , J Pediat 57:649, 1960.Crossref 3. Settelmayer, J. R., and Hogan, M.: Waardenburg's Syndrome—Report of Case in Non-Dutch Family , New Eng J Med 264:500, 1961.Crossref 4. Waardenburg, P. J.: New Syndrome , Amer J Hum Genet 3:195, 1951. 5. Fisch, L.: Deafness as Part of Hereditary Syndrome , J Laryng 73:355, 1959.Crossref 6. Thorkilgard, O.: Waardenburg's Syndrome in Father and Daughter , Acta Opthal 40:590, 1962.Crossref 7. Partington, M. B.: Waardenburg's Syndrome and Heterochromia Iridum in Deaf School Population , Canad Med Assoc J 90:1008, 1964. 8. Aasved, H.: Waardenburg's Syndrome , Acta Opthal 40:622, 1962.Crossref 9. Nelson, W. E.: Textbook of Pediatrics , ed 8, Philadelphia: W. B. Saunders, 1964, p 825. 10. Houghton, N. I.: Waardenburg's Syndrome , New Zeal Med J 63:83, 1964. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Waardenburg's Syndrome in Six Generations of One Family

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Publisher
American Medical Association
Copyright
Copyright © 1965 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1965.02090020581016
Publisher site
See Article on Publisher Site

Abstract

Abstract Introduction SINCE Waardenburg's description in 19501 of a syndrome characterized by certain congenital abnormalities affecting the eyelids, in association with pigmentary defects in the irides and congenital deafness, increasing recognition of this condition has occurred in the foreign literature. At present, case reports come from England, Canada, Scandinavia, the Netherlands, South Africa, Germany, Israel, India, New Zealand, and Japan. In this country, Di George et al2 in 1960, for the first time, brought this little known syndrome to the attention of the American readers. A discovery of a family with Waardenburg's syndrome by one of us in 1963 prompted a search for additional cases in the American journals. A review at that time disclosed only one other paper, written by Stettelmayer and Hogan and published in 1961.3 It was their purpose to show that Waardenburg's syndrome could occur in a patient of mixed American heritage. Our reasons References 1. Waardenburg, P. J.: New Syndrome, Acta XVI Concilium Opthalmologicum (Britannia) 1950, (from DiGeorge, Olmsted and Harley). 2. Di George, A. M.; Olmsted, R. W.; and Harley, R. D.: Waardenburg's Syndrome , J Pediat 57:649, 1960.Crossref 3. Settelmayer, J. R., and Hogan, M.: Waardenburg's Syndrome—Report of Case in Non-Dutch Family , New Eng J Med 264:500, 1961.Crossref 4. Waardenburg, P. J.: New Syndrome , Amer J Hum Genet 3:195, 1951. 5. Fisch, L.: Deafness as Part of Hereditary Syndrome , J Laryng 73:355, 1959.Crossref 6. Thorkilgard, O.: Waardenburg's Syndrome in Father and Daughter , Acta Opthal 40:590, 1962.Crossref 7. Partington, M. B.: Waardenburg's Syndrome and Heterochromia Iridum in Deaf School Population , Canad Med Assoc J 90:1008, 1964. 8. Aasved, H.: Waardenburg's Syndrome , Acta Opthal 40:622, 1962.Crossref 9. Nelson, W. E.: Textbook of Pediatrics , ed 8, Philadelphia: W. B. Saunders, 1964, p 825. 10. Houghton, N. I.: Waardenburg's Syndrome , New Zeal Med J 63:83, 1964.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Jun 1, 1965

References