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Waardenburg's Syndrome in Six Generations of One Family FREE

STANLEY J. RUGEL, MD; EDWIN U. KEATES, MD
[+] Author Affiliations

Received for publication Feb 22, 1965.

Reprint requests to 700 W Roosevelt Blvd, Philadelphia, Pa 19140 (Dr. Rugel).


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

Waardenburg, P. J.: New Syndrome, Acta XVI Concilium Opthalmologicum (Britannia) 1950, (from DiGeorge, Olmsted and Harley).
Di George, A. M.; Olmsted, R. W.; and Harley, R. D.:  Waardenburg's Syndrome , J Pediat 57:649, 1960;.
Settelmayer, J. R., and Hogan, M.:  Waardenburg's Syndrome—Report of Case in Non-Dutch Family , New Eng J Med 264:500, 1961;.
Waardenburg, P. J.:  New Syndrome , Amer J Hum Genet 3:195, 1951;.
Fisch, L.:  Deafness as Part of Hereditary Syndrome , J Laryng 73:355, 1959;.
Thorkilgard, O.:  Waardenburg's Syndrome in Father and Daughter , Acta Opthal 40:590, 1962;.
Partington, M. B.:  Waardenburg's Syndrome and Heterochromia Iridum in Deaf School Population , Canad Med Assoc J 90:1008, 1964;.
Aasved, H.:  Waardenburg's Syndrome , Acta Opthal 40:622, 1962;.
Nelson, W. E.: Textbook of Pediatrics , ed 8, Philadelphia: W. B. Saunders, 1964;, p 825.
Houghton, N. I.:  Waardenburg's Syndrome , New Zeal Med J 63:83, 1964;.

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References

Waardenburg, P. J.: New Syndrome, Acta XVI Concilium Opthalmologicum (Britannia) 1950, (from DiGeorge, Olmsted and Harley).
Di George, A. M.; Olmsted, R. W.; and Harley, R. D.:  Waardenburg's Syndrome , J Pediat 57:649, 1960;.
Settelmayer, J. R., and Hogan, M.:  Waardenburg's Syndrome—Report of Case in Non-Dutch Family , New Eng J Med 264:500, 1961;.
Waardenburg, P. J.:  New Syndrome , Amer J Hum Genet 3:195, 1951;.
Fisch, L.:  Deafness as Part of Hereditary Syndrome , J Laryng 73:355, 1959;.
Thorkilgard, O.:  Waardenburg's Syndrome in Father and Daughter , Acta Opthal 40:590, 1962;.
Partington, M. B.:  Waardenburg's Syndrome and Heterochromia Iridum in Deaf School Population , Canad Med Assoc J 90:1008, 1964;.
Aasved, H.:  Waardenburg's Syndrome , Acta Opthal 40:622, 1962;.
Nelson, W. E.: Textbook of Pediatrics , ed 8, Philadelphia: W. B. Saunders, 1964;, p 825.
Houghton, N. I.:  Waardenburg's Syndrome , New Zeal Med J 63:83, 1964;.

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