A new observation of two cases of acrofacial dysostosis type Genée-Wiedemann in a family--remarks on the mode of inheritance: report on two sibs

Am J Med Genet. 1996 Sep 6;64(4):556-62. doi: 10.1002/(SICI)1096-8628(19960906)64:4<556::AID-AJMG6>3.0.CO;2-N.

Abstract

We report on a Yugoslavian sibpair with postaxial acrofacial dysostosis type Genée-Wiedemann with some novel signs which broaden the spectrum of this syndrome. The manifestations of the present cases are compared with those of the previously described patients. Life expectancy, change of symptoms over time, and the mode of inheritance are discussed.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Female
  • Foot Deformities, Congenital / genetics
  • Hand Deformities, Congenital / genetics
  • Humans
  • Male
  • Mouth Diseases / genetics