Human Genetics

, Volume 55, Issue 2, pp 177–189

A family with whistling-face-syndrome

Authors

  • Angelika Wettstein
    • Institut für Anthropologie und HumangenetikUniversität Heidelberg
  • G. Buchinger
    • Institut für Anthropologie und HumangenetikUniversität Heidelberg
  • A. Braun
    • Orthopädische Klinik und PoliklinikUniversität Heidelberg
  • U. Banniza v. Bazan
    • Orthopädische Klinik und PoliklinikUniversität Heidelberg
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