Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred

J Med Genet. 1980 Oct;17(5):349-56. doi: 10.1136/jmg.17.5.349.

Abstract

An inbred kindred with 15 cases of the autosomal recessive Ellis-van Creveld syndrome is reported. The ages of the 12 living affected varied between 3 and 82 years. The main characteristics include polydactyly of the hands and feet and several other skeletal anomalies, oral manifestations, and malformations of the heart in 50% of the living affected.

Publication types

  • Case Reports

MeSH terms

  • Brazil
  • Consanguinity*
  • Ellis-Van Creveld Syndrome / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Pedigree
  • Phenotype