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June 1965

Waardenburg's Syndrome in Six Generations of One Family

Author Affiliations

From the Department of Pediatrics of Temple University School of Medicine and St. Christopher's Hospital for Children (Dr. Rugel) and Wills Eye Hospital (Dr. Keates).

Am J Dis Child. 1965;109(6):579-583. doi:10.1001/archpedi.1965.02090020581016

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

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