ABSTRACT
Waardenburg syndrome is named for the Dutch ophthalmologist and geneticist Petrus Waardenburg (1886-1979) whose monumental 1951 paper (1) contains the first systematic clinical description of what we now call Type 1 Waardenburg syndrome (WS1). In fact, auditory-pigmentary syndromes have a long history and are known in many mammalian species, reviewed by Steel and Barkway (2). The combination of hearing loss with white spotting, white coat, and/or pale eyes has been noted in mice, rats, hamsters, dogs, cats, horses, and cattle, and probably other species too. In humans, sporadic reports of auditory-pigmentary phenotypes have appeared over many years. Waardenburg himself first became interested in the condition through ophthalmology. He had reported in 1947 on dystopia canthorum in a Dutch tailor who was deaf, and remarked that a similar eye abnormality had been described in twins who were “coincidentally” also deaf. Later, on a visit to David Klein in Geneva he saw a 10-yearold girl who had a remarkably severe auditory-pigmentary syndrome, in which the features he had noted in his tailor were present to an extreme degree, combined with severe limb amyoplasia. No longer confident that the hearing loss was coincidental, he conducted a major study of residents of a Dutch institution for the deaf, looking for inherited dystopia canthorum. He ascertained 14 unrelated probands, whose families included 161 affected individuals.
