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Hypohidrotic ectodermal dysplasia in females

A critical analysis and argument for genetic heterogeneity

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Abstract

The authors report a female with full-blown hypohidrotic ectodermal dysplasia and survey the literature concerning cases of the complete syndrome in females. The condition is ordinarily inherited as an X-linked recessive trait but evidence suggests that other patterns of inheritance may occur. There are several examples of probable autosomal recessive inheritance. The syndrome appears to be an example of genetic heterogeneity.

Zusammenfassung

Bericht über ein 5jähriges Mädchen mit vollausgeprägter hypohidrotischer Ektodermal-Dysplasie und Literaturübersicht bezüglich Vorkommens des kompletten Syndroms beim weiblichen Geschlecht. Die hypohidrotische Ektodermal-Dysplasie folgt üblicherweise einem X-chromosomal-recessiven Erbgang. Allem Anschein nach kommen aber auch andere Vererbungstypen vor; so gibt es eine Reihe von Beispielen für eine wahrscheinlich autosomal-recessive Vererbung. Das Syndrom scheint somit ein Beispiel für genetische Heterogenie zu sein.

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Author information

Authors and Affiliations

  1. Division of Oral Pathology, School of Dentistry, University of Minnesota, Minneapolis, Minnesota, USA

    Robert J. Gorlin (Professor and Chairman)

  2. School of Dentistry, University of Minnesota, Minneapolis, Minnesota, USA

    Toby Old (Dental Student)

  3. Dight Institute, University of Minnesota, Minneapolis, Minnesota, USA

    V. Elving Anderson (Professor and Assistant Director)

Authors
  1. Robert J. Gorlin
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  2. Toby Old
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  3. V. Elving Anderson
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Additional information

This study was made possible in part by U.S.P.H.S. Program Grant in Oral Pathology, DE-1770.

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Gorlin, R.J., Old, T. & Anderson, V.E. Hypohidrotic ectodermal dysplasia in females. Z. Kinder-Heilk. 108, 1–11 (1970). https://doi.org/10.1007/BF00440560

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  • DOI: https://doi.org/10.1007/BF00440560

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