Petrus Johannes Waardenburg

Personal

Vocation

Notable

Dutch ophthalmologist, geneticist, and pioneer in the application of genetics to ophthalmology, after whom Waardenburg syndrome is named. Waardenburg syndrome, or more fully, the van der Hoeve-Halbertsma-Waardenburg-Klein syndrome, is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies. Waardenburg gave a detailed review of the syndrome in 1951. He described the syndrome as a distinct entity and found the anomalies in 12 of 840 deaf mutes. Earlier, in 1932, Waardenburg suggested that Down syndrome might be the consequence of a chromosomal aberration, a fact which was confirmed after 27 years, by Jérôme Lejeune and his colleagues. Between 1961 and 1974 the three volumes of Waardenburg's book Genetics and Ophthalmology were published. Waardenburg was awarded the Royal decoration Order of the Netherlands Lion in 1957. He died on 23 September 1979 at age 93. Link to Wikipedia biography