Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family

Am J Med Genet. 1987 Dec;28(4):971-80. doi: 10.1002/ajmg.1320280424.

Abstract

We report on a consanguineous Brazilian couple whose 2 children had tibial aplasia-ectrodactyly. Femoral bifurcation was present in one of the affected children. The relationship of tibial aplasia-ectrodactyly to the Gollop-Wolfgang complex is discussed. Clinical and genetic aspects of the conditions involving tibial aplasia and femoral bifurcation are discussed.

Publication types

  • Case Reports

MeSH terms

  • Brazil
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Consanguinity
  • Female
  • Femur / abnormalities
  • Fingers / abnormalities*
  • Gene Expression Regulation*
  • Genes, Recessive*
  • Humans
  • Syndrome
  • Tibia / abnormalities*
  • Toes / abnormalities*