[Oto-palato-digital type I syndrome in five generations. Relationship to the type II form]

Ann Genet. 1988;31(3):155-61.
[Article in French]

Abstract

Three cases of oto-palato-digital syndrome (OPD) are described. They are from the same family, in which the syndrome is an X linked recessive disorder, transmitted through five generations. These cases are classified rather in the OPD type I. The limit between OPD I and II is discussed. The hypothesis of two allelic genes is suggested.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Diagnosis, Differential
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Orofaciodigital Syndromes / classification
  • Orofaciodigital Syndromes / diagnosis
  • Orofaciodigital Syndromes / genetics*
  • Pedigree
  • X Chromosome