Petrus Johannes Waardenburg

Petrus Johannes Waardenburg (3 June 1886 – 23 September 1979) was a Dutch ophthalmologist, geneticist, and pioneer in the application of genetics to ophthalmology. Waardenburg syndrome is named after him.

Biography Waardenburg studied medicine at the Utrecht University from 1904–11, and then trained in ophthalmology before receiving an MD for a dissertation on the hereditary basis of the physiological and pathological characteristics of the eye in 1913.

Waardenburg was a regular contributor to eugenics publications. 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.

From 1934 to 1940, Waardenburg was external university lecturer in medical genetics at Utrecht University. From 1931 to 1935 he was secretary of the Netherlands Ophthalmological Society. He was a founding member of the Netherlands Anthropogenetic Society and its president from 1949 to 1963. He became honorary member of these two societies. He also became honorary member of similar Danish, Italian, and German societies. He was made honorary doctor of the Rijksuniversiteit in Leiden in 1954 and of the Wilhelms Universitat of Munster in 1964. In August 1947 David Klein presented a deaf mute child, who was 10 years of age, and had partial albinism of the hair and body, blue hypoplastic rides, blepharophimosis, and malformation of the arms, to the Swiss Society of Genetics, and gave a full report of his findings in 1950. He described the syndrome as a distinct entity and found the anomalies in 12 of 840 deaf mutes.

Honors Waardenburg was awarded the Royal decoration Order of the Netherlands Lion in 1957. He received the Snellen medal in 1959. He founded the Waardenburg prize for special merit in the medical genetic field in 1965.