Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome?

Am J Med Genet. 1992 Feb 15;42(4):480-6. doi: 10.1002/ajmg.1320420413.

Abstract

We observed the combination of the Robin sequence with perodactyly (hypoplasia and/or agenesis of the distal phalanx of the toes) and cardiac arrhythmia (ventricular extrasystoles occurring as bigemini or multifocal tachycardia with syncopal episodes) in 6 relatives in 3 generations. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Cardiac Complexes, Premature / genetics*
  • Child
  • Female
  • Genes, Dominant
  • Heart Ventricles / physiopathology
  • Humans
  • Limb Deformities, Congenital*
  • Male
  • Pedigree
  • Pierre Robin Syndrome / genetics*
  • Syndrome