A Pedigree of Waardenburg's Syndrome in a Japanese Family

Tamada Akira, Kobayashi Toshiyo, Mizuno Haruo, Sasaki Isao

doi:10.5631/jibirin.72.1599

Waardenburg described in 1951 the syndrome with which his name is associated. The main components of the syndrome are: 1) Dystopia canthi medialis lateroversa 2) Hyperplasia radicis nasi 3) Hyperplasia supercilii medialis 4) Poliosis—White forelock 5) Heterochromia iridum 6) Unilateral or bilateral neural deafness Waardenburg's syndrome is inherited as a Mendelian dominant but the various features are not always found together in any given case, according to the penetrance and expressivity of the genes. In this case, a 4 year old boy has pale blue eyes without any other eye anomalies and in our E. N. T. clinic, he was also found to have a congenital neural deafness on the right side, by E. R. A. system. In addetion, he also had the characteristics of 1) and 3) listed above. The latter 2 characteristics were also evident in the grandmother, mother and one of the uncles. They do not, however, show any other anomalies. This syndrome is considered to be transmitted through the maternal genes.

A Pedigree of Waardenburg's Syndrome in a Japanese Family

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