Article

Acrofacial dysostosis (Nager syndrome): Synopsis and report of a new case

  1. R. A. Pfeiffer1,*,
  2. H. Stoess2,
  3. John M. Opitz Editor

Article first published online: 2 JUN 2005

DOI: 10.1002/ajmg.1320150208

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 15, Issue 2, pages 255–260, June 1983

Additional Information

How to Cite

Pfeiffer, R. A., Stoess, H. and Opitz, J. M. (1983), Acrofacial dysostosis (Nager syndrome): Synopsis and report of a new case. Am. J. Med. Genet., 15: 255–260. doi: 10.1002/ajmg.1320150208

Author Information

  1. 1

    Institut für Humangenetik und Anthropologie, der Friedrich-Alexander Universität, Erlangen-Nürnberg, Federal Republic of Germany

  2. 2

    Pathologisches Institut, der Friedrich-Alexander Universität, Erlangen-Nürnberg, Federal Republic of Germany

*Institut für Humangenetik, Bismarckstrasse 10, D-8520 Erlangen, Federal Republic of Germany

Publication History

  1. Issue published online: 2 JUN 2005
  2. Article first published online: 2 JUN 2005
  3. Manuscript Revised: 16 NOV 1982
  4. Manuscript Received: 8 OCT 1982

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Keywords:

  • mandibulofacial dysostosisa;
  • Franceschetti-Klein-Zwahlen syndrome;
  • Treacher-Collins syndrome;
  • acrofacial dysostosis;
  • Nager syndrome

Abstract

Acrofacial dysostosis is noted in a stillborn female with mandibulofacial abnormality without cleft palate and with bilateral radial hemimelia, duplication of the left great toe, and aplasia of the right kidney. Synopsis of the published cases shows that the various degrees of mandibulofacial dysostosis frequently characterized by cleft palate and atresia of the auditory meatus are not closely correlated with the malformation of the upper limb. Formal genetics are unknown.

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