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The Weaver syndrome in a girl

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Abstract

This paper reports the first female case of the Weaver syndrome. The prominent clinical features are gigantism, macrocephaly, and the characteristic facial dysmorphism. Hypertonia and bone maturation acceleration are somewhat less pronounced than in the formerly published cases of male patients.

The etiology of the syndrome remains unclear, but if genetic, X-linked recessive inheritance can be excluded.

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Authors and Affiliations

  1. Humangenetische Untersuchungsstelle, Gesundheitsbehörde Hamburg, Bülowstrasse 9, D-2000, Hamburg 50

    P. Meinecke

  2. Röntgenabteilung des Altonaer Kinderkrankenhauses, Bleickenallee 38, D-2000, Hamburg 50

    E. Schaefer

  3. Altonaer Kinderkrankenhaus, Bleickenallee 38, D-2000, Hamburg 50, Federal Republic of Germany

    R. Engelbrecht

Authors
  1. P. Meinecke
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  2. E. Schaefer
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  3. R. Engelbrecht
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Meinecke, P., Schaefer, E. & Engelbrecht, R. The Weaver syndrome in a girl. Eur J Pediatr 141, 58–59 (1983). https://doi.org/10.1007/BF00445673

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  • DOI: https://doi.org/10.1007/BF00445673

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