A dominant syndrome of metacarpal and metatarsal asymmetry with tarsal and carpal fusions, syndactyly, articular dysplasia and platyspondyly

Clin Genet. 1975 Jul;8(1):75-80. doi: 10.1111/j.1399-0004.1975.tb01957.x.

Abstract

A mother and daughter with metacarpal and metatarsal asymmetry, tarsal and carpal fusions, long bone articular dysplasia and platyspondyly are reported as a possible autosomal dominant syndrome affecting skeletal development. The asymmetry of the second metacarpals is perhaps the most striking finding and resulted in a range of bone lengths in the two individuals from minus 6.3 to plus 3.7 standard deviations from the mean.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Bone Diseases, Developmental / genetics*
  • Carpal Bones / abnormalities*
  • Female
  • Humans
  • Metacarpus / abnormalities*
  • Metatarsus / abnormalities*
  • Spine / abnormalities*
  • Syndactyly / genetics*
  • Syndrome
  • Tarsal Bones / abnormalities*