Symptomatic heterozygosity in the Ellis-van Creveld syndrome?

Clin Genet. 1995 Apr;47(4):217-20. doi: 10.1111/j.1399-0004.1995.tb03963.x.


A 13-month-old girl with Ellis-van Creveld syndrome and her mildly affected father are described. We discuss whether the father is a symptomatic heterozygote of the Ellis-van Creveld syndrome or an untypical affected patient with Weyers' acrodental dysostosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ellis-Van Creveld Syndrome / genetics*
  • Ellis-Van Creveld Syndrome / pathology
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Pedigree