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A family with whistling-face-syndrome

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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.

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Authors and Affiliations

  1. Institut für Anthropologie und Humangenetik, Universität Heidelberg, Im Neuenheimer Feld 328, D-6900, Heidelberg, Federal Republic of Germany

    Angelika Wettstein & G. Buchinger

  2. Orthopädische Klinik und Poliklinik, Universität Heidelberg, Schlierbacher Landstr. 200a, D-6900, Heidelberg, Federal Republic of Germany

    A. Braun & U. Banniza v. Bazan

Authors
  1. Angelika Wettstein
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  2. G. Buchinger
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  3. A. Braun
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  4. U. Banniza v. Bazan
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Wettstein, A., Buchinger, G., Braun, A. et al. A family with whistling-face-syndrome. Hum Genet 55, 177–189 (1980). https://doi.org/10.1007/BF00291765

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  • DOI: https://doi.org/10.1007/BF00291765

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