Petrus Waardenburg
Petrus Johannes Waardenburg (1886 – 1979) was a Dutch ophthalmologist and geneticist.
Waardenburg was one of the founders of clinical genetics in The Netherlands. A specialist in anthropogenetics he studied the genetics of eye disease in detail
Eponymously remembered for his descriptions of Waardenburg syndrome (1951); Waardenburg-Jonkers disease (1961); and Shah-Waardenburg syndrome (1981)
Biography
- Born 3 June 1886 in Nijeveen
- 1911 – Graduated medicine, Utrecht University
- 1959 – Snellen medal
- Died 23 September 1979
Medical Eponyms
Waardenburg syndrome (1951)
Autosomal dominant syndrome consisting of (1) dystopia canthorum; (2) pigmentary abnormalities of the eyes, hair, or skin; and (3) deafness. After seeing a patient with deafness and dystopic canthi in 1947 Dr. Waardenburg examined all the pupils in the schools for deaf children in The Netherlands. Of the 1,050 pupils he found 12 affected by this syndrome. In the families of these 12 children he detected altogether 114 patients with similar abnormalities. [aka van der Hoeve-Halbertsma-Waardenburg-Klein syndrome]
Other medical eponyms
- Waardenburg syndrome I (1934): Acrocephalosyndactyly syndrome characterized by lack of osseous fusion of the short tubular bones, oligodactyly of the feet, short stature, pericardial cysts, rectal prolapse, and deformed ears. Inheritance is autosomal dominant.
- Waardenburg-Jonkers disease (1961): Progressive corneal dystrophy in young infants, with eye irritation episodes, progressive impairment of vision, and reduction of corneal sensitivity. Transmitted as a dominant trait
- Shah-Waardenburg syndrome (1981): Waardenburg syndrome is associated with white forelock, white eyebrows and eyelashes, iridochromia iridis, and intestinal obstruction caused by a long-segment Hirschprung disease. The syndrome is transmitted as an autosomal recessive trait.
Major Publications
- Waardenburg PJ. Das menschliche Auge und seine Erbanlagen. Nijhoff, 1932 [Down syndrome]
- Waardenburg PJ. Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934; 92: 29-44. [Waardenburg syndrome I]
- Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and noseroot with pigmentary anomalies of the iris and head hair and with congenital deafness; Dystopia canthi medialis et punctorum lacrimalium lateroversa, hyperplasia supercilii medialis et radicis nasi, heterochromia iridum totaliis sive partialis, albinismus circumscriptus (leucismus, polioss) et surditas congenita (surdimutitas). Am J Hum Genet. 1951; 3(3): 195-253. [Waardenburg syndrome]
- Waardenburg PJ. A new syndrome, of importance for oculists and ear specialists. Ophthalmologica 1952; 123(3): 184–186. [Waardenburg syndrome]
- Waardenburg PJ. Genetics and Ophthalmology. 1961
- Waardenburg PJ, Jonkers GH. A specific type of dominant progressive dystrophy of the cornea, developing after birth. Acta Ophthalmol, 1961; 39(5): 919‐923.
References
- Bibliography. Petrus Johannes Waardenburg (1886 – 1979). World Cat Identities
- Opitz JM. In memoriam: Petrus Johannes Waardenburg, 1886–1979. Am J Med Genet. 1980; 7(1): 35‐39.
- Deutman AF. P. J. Waardenburg, M.D. 1886-1979. Am J Ophthalmol. 1980; 89(2): 306‐308.
- Williamson KF. Petrus Johannes Waardenburg, MD. Br J Ophthalmol. 1980; 64(3): 224.
- Shah KN et al. White forelock, pigmentary disorder of irides, and long segment Hirschprung disease: Possible variant of Waardenburg syndrome. Journal of Pediatrics, St. Louis, 1981; 99: 432-435.
- François J. Waardenburg’s memorial lecture: Waardenburg’s syndrome. Int Ophthalmol. 1982; 5(1): 3‐13.
