Petrus Johannes Waardenburg
Encyclopedia
Petrus Johannes Waardenburg (3 June 1886, Nijeveen
, Drenthe
– 23 September 1979) was a Dutch
ophthalmologist
, geneticist
, and pioneer in the application of genetics to ophthalmology. Waardenburg syndrome
is named after him.
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.
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.
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 Preventative 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.
, 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.
In 1913, Jan van der Hoeve
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.
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.Nijeveen was a separate municipality until 1998, when it was merged with Meppel....
, Drenthe
Drenthe
Drenthe is a province of the Netherlands, located in the north-east of the country. The capital city is Assen. It is bordered by Overijssel to the south, Friesland to the west, Groningen to the north, and Germany to the east.-History:Drenthe, unlike many other parts of the Netherlands, has been a...
– 23 September 1979) was a Dutch
Netherlands
The Netherlands is a constituent country of the Kingdom of the Netherlands, located mainly in North-West Europe and with several islands in the Caribbean. Mainland Netherlands borders the North Sea to the north and west, Belgium to the south, and Germany to the east, and shares maritime borders...
ophthalmologist
Ophthalmology
Ophthalmology is the branch of medicine that deals with the anatomy, physiology and diseases of the eye. An ophthalmologist is a specialist in medical and surgical eye problems...
, geneticist
Geneticist
A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a researcher or lecturer. Some geneticists perform experiments and analyze data to interpret the inheritance of skills. A geneticist is also a Consultant or...
, and pioneer in the application of genetics to ophthalmology. Waardenburg syndrome
Waardenburg syndrome
Waardenburg syndrome Waardenburg syndrome Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,[5] Van...
is named after him.
Biography
Waardenburg studied medicine at the Utrecht UniversityUtrecht University
Utrecht University is a university in Utrecht, Netherlands. It is one of the oldest universities in the Netherlands and one of the largest in Europe. Established March 26, 1636, it had an enrollment of 29,082 students in 2008, and employed 8,614 faculty and staff, 570 of which are full professors....
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.
In 1932 Waardenburg suggested that Down syndrome
Down syndrome
Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...
might be the consequence of a chromosomal aberration, a fact which was confirmed after 27 years, by Jérôme Lejeune
Jérôme Lejeune
Servant of God Jérôme Jean Louis Marie Lejeune was a French Catholic pro-life paediatrician and geneticist, best known for his discovery of the link of diseases to chromosome abnormalities...
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 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 Preventative 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
Waardenburg syndromeWaardenburg syndrome
Waardenburg syndrome Waardenburg syndrome Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,[5] Van...
, or more fully, the van der Hoeve-Halbertsma-Waardenburg-Klein syndrome, is a rare genetic disorder
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
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
Jan van der Hoeve was a Dutch ophthalmologist. He is recognised for his concept of the phakomatoses, often called neurocutaneous syndromes....
observed and described a lateral position of the lacrimal points and shortened eyelid slit in identical deaf mute twins. In August 1947 David Klein
David Klein (ophthalmologist)
David Klein was a Swiss human geneticist and ophthalmologist.Klein graduating from the University of Basel in 1934. After graduating, he worked at the Rheinau Psychiatric Clinic, Zurich. He moved to Geneva as scientific assistant to professor Adolphe Franceschetti at the ophthalmological clinic....
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.