The "long-thumb" brachydactyly syndrome

Am J Med Genet. 1981;8(1):5-16. doi: 10.1002/ajmg.1320080103.


A unique variety of brachydactyly associated with skeletal and joint anomalies and possible cardiac conduction defects has been observed in three generations of one family in a pattern consistent with autosomal-dominant transmission. This combination of anomalies has not previously been seen together as a single syndrome. We report clinical and radiographic studies in three of the four affected members.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Arrhythmias, Cardiac / genetics*
  • Bone Diseases, Developmental / genetics*
  • Female
  • Fingers / abnormalities*
  • Genes, Dominant
  • Humans
  • Joint Diseases / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Syndrome