Petrus Johannes Waardenburg (3 June 1886,

Nijeveen Nijeveen is a village in the Dutch province of Drenthe. It is a part of the municipality of Meppel, and lies about 5 km northwest of Meppel. History The village was first mentioned in 1310 as "in Hesselrevene", and means "new bog". Nijevee ...

Drenthe Drenthe () is a province of the Netherlands located in the northeastern part of the country. It is bordered by Overijssel to the south, Friesland to the west, Groningen to the north, and the German state of Lower Saxony to the east. As of Nove ...

– 23 September 1979) was a Dutch

ophthalmologist Ophthalmology ( ) is a surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a med ...

geneticist A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes ...

, and pioneer in the application of genetics to ophthalmology.

Waardenburg syndrome Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white foreloc ...

is named after him.

Biography

Waardenburg studied medicine at the

Utrecht University Utrecht University (UU; nl, Universiteit Utrecht, formerly ''Rijksuniversiteit Utrecht'') is a public research university in Utrecht, Netherlands. Established , it is one of the oldest universities in the Netherlands. In 2018, it had an enrollme ...

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 Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual d ...

might be the consequence of a chromosomal aberration, a fact which was confirmed after 27 years, by

Jérôme Lejeune Jérôme Jean Louis Marie Lejeune (13 June 1926 – 3 April 1994) was a French pediatrician and geneticist, best known for discovering the link of diseases to chromosome abnormalities, most especially the link between Down Syndrome and trisomy-21 ...

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. Waardenburg spoke out against the use of eugenics to justify racial genocide by Nazis during their occupation of Netherlands from 1940-1945. They allowed him to continue his research because it did often support Nazi ideology. Waardenburg was almost 50 years of age before he was habilitated as a lecturer in human genetics. At the age of 66, in 1952, he was finally appointed professor of genetics at the Institute of Preventive Medicine, Leiden. Between 1961 and 1974 the three volumes of his book ''Genetics and Ophthalmology'' were published. Until 1970 Waardenburg gave genetic advice in paternity cases in the Dutch legal courts and genetic counselling. Between 1910 and 1970 Waardenburg published 267 papers in all. They included original observations on albinism' and many other hereditary conditions. He contributed the chapter on heredity in eye disease to ''Modern Trends in Ophthalmology''.

Waardenburg syndrome

is a rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies. In 1913,

Jan van der Hoeve Jan van der Hoeve (13 April 1878 in Santpoort – 26 April 1952 in Leiden) was a Dutch ophthalmologist. He is recognised for his concept of the phakomatoses, often called neurocutaneous syndromes. Van der Hoeve graduated from the University o ...

observed and described a lateral position of the lacrimal points and shortened eyelid slit in identical deaf mute twins. 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. Waardenburg gave an account of a deaf adult with similar facial features in December 1948, followed by a detailed review in 1951. 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 The Order of the Netherlands Lion, also known as the Order of the Lion of the Netherlands ( nl, De Orde van de Nederlandse Leeuw, french: L'Ordre du Lion Néerlandais) is a Dutch order of chivalry founded by King William I of the Netherlands on ...

in 1957. He received the Snellen medal in 1959. He founded the Waardenburg prize for special merit in the medical genetic field in 1965.

Notes

{{DEFAULTSORT:Waardenburg, Petrus 1886 births 1979 deaths People from Meppel Dutch geneticists Dutch ophthalmologists Utrecht University alumni Utrecht University faculty