Bartsocas-Papas syndrome: three familial cases from Spain

Am J Med Genet. 1991 Apr 1;39(1):34-7. doi: 10.1002/ajmg.1320390109.

Abstract

We report on 3 Spanish sibs with the Bartsocas-Papas syndrome. This appears to be the seventh reported family; all but one of them are of Mediterranean origin. We propose that a generalized vascular disruption is the most likely pathogenetic mechanism for the anomalies found in this syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Face / abnormalities*
  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Pterygium / genetics*
  • Spain
  • Syndrome