Twenty-seven subjects with a family history of Waardenburg's syndrome were examined with respect to 18 specific characteristics of the syndrome, with particular emphasis in identifying the spectrum of the phenotypic expression of affected persons. Our results indicate that patients with the syndrome may have a variety of clinical signs, and an accurate diagnosis will therefore depend on a thorough and pertinent family history and physical examination.
Get full access to this article
View all access options for this article.
References
1.
WaardenburgPJ: 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 Genet3: 195–253, 1951.
2.
BwiboNOMkonoMD: Waardenburg's syndrome in an African child. Hum Hered20: 19–22, 1970.
3.
FraserGR: The Causes of Profound Deafness in Childhood, ed 1. Baltimore, Johns Hopkins University Press, 1976, pp 90–133.
4.
SinabulyaPM: Waardenburg's syndrome. East Afr Med J49: 693–695, 1972.
5.
ZeligS: Syndrome of Waardenburg with deafness. Laryngoscope71: 19–23, 1961.
6.
FischL: Deafness as part of an hereditary syndrome. J Laryngol Otol73: 355–382, 1959.
7.
HagemanMJ: Audiometric findings in 34 patients with Waardenburg's syndrome. J Laryngol Otol91: 575–584, 1977.
8.
AriasS: Genetic heterogeneity in the Waardenburg syndrome. Birth Defects7: 87–101, 1971.
9.
HagemanMJDellemanJW: Heterogeneity in Waardenburg's syndrome. Am J Hum Genet29: 468–485, 1977.
10.
SmithD: Recognizable Patterns of Human Malformations, ed 2. Philadelphia, WB Saunders Co, 1976, p 124.
