Human Genetics

, Volume 55, Issue 2, pp 177–189

A family with whistling-face-syndrome

  • Angelika Wettstein
  • G. Buchinger
  • A. Braun
  • U. Banniza v. Bazan
Original Investigations

DOI: 10.1007/BF00291765

Cite this article as:
Wettstein, A., Buchinger, G., Braun, A. et al. Hum Genet (1980) 55: 177. doi:10.1007/BF00291765

Summary

A family with 7 persons affected with whistling-face-syndrome in 3 successive generations is described. The clinical variability of the syndrome within one family is demonstrated by means of examining particular characteristics of four daughters in the family. Six affected persons are female; the only male carrier died in early infancy because of the severity of symptoms. The known autosomal dominant inheritance combined with clinical variability and bias towards female manifestation is present in this family.

Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • Angelika Wettstein
    • 1
  • G. Buchinger
    • 1
  • A. Braun
    • 2
  • U. Banniza v. Bazan
    • 2
  1. 1.Institut für Anthropologie und HumangenetikUniversität HeidelbergHeidelbergFederal Republic of Germany
  2. 2.Orthopädische Klinik und PoliklinikUniversität HeidelbergHeidelbergFederal Republic of Germany