Dominant distal arthrogryposis in a Maori family with marked variability of expression

Am J Med Genet. 1995 Feb 13;55(4):414-9. doi: 10.1002/ajmg.1320550406.

Abstract

The index case was a Maori bushman who presented with severe congenital spinal stenosis and manifestations of distal arthrogryposis. His offspring and 8 of his 9 sibs and most of their offspring were interviewed and examined. Of those examined 7 individuals with definite and 2 with probable distal arthrogryposis were identified in 4 of the families. A tenth relative with distal arthrogryposis and contractural arachnodactyly had died. There was marked variability in the severity and nature of manifestations with 2 having severe hand and foot involvement in addition to craniofacial changes compatible with a diagnosis of Freeman-Sheldon syndrome. Other apparently unrelated hereditary disorders in the family included ectrodactyly, biliary atresia, and Brachmann-de Lange syndrome. This is the first report of arthrogryposis in a Maori family.

Publication types

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

MeSH terms

  • Adult
  • Arthrogryposis / classification
  • Arthrogryposis / genetics*
  • Arthrogryposis / pathology
  • Female
  • Foot / pathology
  • Genes, Dominant
  • Hand / pathology
  • Humans
  • Male
  • New Zealand
  • Pedigree
  • Phenotype
  • Syndrome
  • White People / genetics