Hostname: page-component-586b7cd67f-dsjbd Total loading time: 0 Render date: 2024-11-26T15:12:40.573Z Has data issue: false hasContentIssue false
  • English
  • Français

Dysostosis mandibulo-facialis (Franceschetti-Zwahlen) in four generations

Published online by Cambridge University Press:  01 August 2014

L. S. Wildervanck
L. S. Wildervanck*
Affiliation:
Anthropogenetical Institute of the State University and Royal Institute for the Deaf, Groningen, The Netherlands

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.

Description of a family five members of which, in four generations show the syndrome mentioned in the title. The mode of inheritance is dominant, with a rather strong penetrance and a great variability in the expressivity. The importance of genetic counseling is stressed.

Riassunto

RIASSUNTO

Descrizione di una famiglia di 4 generazioni in cui cinque membri presentano la sindrome della disostosi mandibolo-facciale. Il modo di trasmissione è dominante con una penetranza piuttosto forte ed una grande variabilità di espressività. Viene sottolineata l'importanza della consulenza genetica.

Résumé

RÉSUMÉ

Description d'une famille de quatre générations dans laquelle cinq membres présentent le syndrome de la dysostose mandibulo-faciale. La manière de transmission est dominante avec une pénétrance assez grande et une grande variabilité d'expressivité. L'importance de la consultation eugénique est soulignée.

Zusammenfassung

ZUSAMMENFASSUNG

Der Verfasser beschreibt eine Familie von vier Generationen in welcher fünf Mitglieder das Syndrom der Dysostosis mandibulo-facialis zeigen. Die Art der Vererbung ist dominant, mit einer ziemlich grossen Penetranz und einer grossen Variabilität der Expressivität. Die Wichtigkeit erbärztlicher Beratung wird hervorgehoben.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 9 , Issue 4 , October 1960 , pp. 447 - 451
Copyright
Copyright © The International Society for Twin Studies 1960

References

Literature

Böök, J. A. and Fraccaro, M. (1955): Acta genet., 5, 327.Google Scholar
Debusman, (1940): Arch. Kinderheilk., 120, 133.Google Scholar
Franceschetti, A. and Klein, D. (1949): Acta ophtalm., 27, Fase. 2, Separ. pp. 143–224.Google Scholar
Franceschetti, A., Klein, D. and Brocher, J. E. W. (1959): Schweiz. Med. Wschr., 89, 478.Google Scholar
Freudenberg, E. (1951): Ann. Paed., 178, 376.Google Scholar
Hövels, O. (1953): Zschr. Kinderheilk., 73, 532 and 568.Google Scholar
Leopold, J. H., Mahoney, J. F. and Price, M. L. (1945): Arch, ophtalm., 34, 210.Google Scholar
Nager, F. R. and de Reijnier, J. P. (1948): Suppl. 2, Vol. 10, Practica oto-rhino-Iaryng.Google Scholar
Roussel, F. (1951): Ann. d'oculist., 184, 788.Google Scholar
Schachter, M. (1954): A. Ge. Me. Ge., 3, 236.Google Scholar
Waardenburg, P. and Navis, H. (1949): Acta genet. Separ. Vol. 1, 219.Google Scholar
Weijers, H. (1956): J. génét. hum., 5, 89.Google Scholar
Zunin, C. (1957): A. Ge. Me. Ge., 7, 483.Google Scholar