Hostname: page-component-cd9895bd7-gbm5v Total loading time: 0 Render date: 2024-12-23T17:08:11.699Z Has data issue: false hasContentIssue false
  • English
  • Français

Syndrome de Waardenburg - Klein

Published online by Cambridge University Press:  01 August 2014

J. François ,
P. Kluyskens ,
M. TH. Matton-Van Leuven ,
D. Manavian  and
L. Rysenaer
J. François
Affiliation:
Institut de Génétique Humaine de l'Université de Gand (Belgique)
P. Kluyskens
Affiliation:
Institut de Génétique Humaine de l'Université de Gand (Belgique)
M. TH. Matton-Van Leuven
Affiliation:
Institut de Génétique Humaine de l'Université de Gand (Belgique)
D. Manavian
Affiliation:
Institut de Génétique Humaine de l'Université de Gand (Belgique)
L. Rysenaer
Affiliation:
Institut de Génétique Humaine de l'Université de Gand (Belgique)

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

In a family with 528 members, in 7 generations, 162 (47% of the 347 examined patients) showed a Waardenburg syndrome. The frequencies of the different signs are as follows: lateral displacement of the canthi interni and lacrimal puncta: 76%; hyperplasia of the nose root: 54%; hyperplasia of the eyebrows: 52%; deafness: 9%; heterochromia of the iris: 9%; partial albinism: 6%.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 14 , Issue 4 , October 1965 , pp. 353 - 375
Copyright
Copyright © The International Society for Twin Studies 1965

References

Bibliographie

Di George, A.M., Olmsted, R.W. and Harley, R.D.: Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness and other characteristic associated defects. Trans. Amer. Acad. Ophthal., 64, 816–839 (1960) and J. Pediat., 57, 649-669 (1960).Google Scholar
Fisch, L.: Deafness as a part of a hereditary syndrome. J. Laryng, 73, 355 (1959).CrossRefGoogle ScholarPubMed
Klein, D.: Albinisme partiel (leucisme) avec surdi-mutité, blépharophimosis et dysplasie myo-osteo-articulaire. Helvet Paediat. Acta, 5, 38–58 (1950).Google Scholar
Klenka, L.: Waardenburg's syndrome – Gsl. Ofthal. 12, 270–275 (1956).Google Scholar
Thorkilgaard, O.: Waardenburg's syndrome in father and daughter. Acta Ophthalm. Kbh. 40, 590–599 (1962).CrossRefGoogle ScholarPubMed
Van Der Hoeve, J.: Abnorme Länge der Tränenrörchen mit Ankyloblepharon. – Klin. Monatsbl. Augenh. 56, 232 (1916).Google Scholar
Waardenburg, P.J.: A new syndrome: Blépharophimosis with distopia canthi medialis Iateroversa, hypertrichosis supercilii, a strand of white hair, heterochromia iridum and deafmutism. Acta XVI Concilium Ophthalmologicum (Britannia) 1, 379–483 (1950).Google Scholar
Waardenburg, P.J.: A new symdrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. – Am. J. Human Genet. 3, 195–253, (1951).Google Scholar
Walsh, F.B.: Clinical Neuro-Ophthalmology. Baltimore, Williams & Wilkins Company (1947).Google Scholar