Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns: a new recessive syndrome

Am J Med Genet. 1993 Aug 15;47(2):246-9. doi: 10.1002/ajmg.1320470220.


We report on 2 brothers with arthrogryposis, hyperkeratosis, and severe hypoplasia of dorsal roots and posterior columns in the one sib who was examined at autopsy. This appears to represent a new arthrogryposis syndrome with poor prognosis, most likely inherited as a single gene, either autosomal or X-linked recessive trait.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis* / genetics
  • Arthrogryposis* / pathology
  • Fatal Outcome
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Keratosis* / genetics
  • Keratosis* / pathology
  • Male
  • Spinal Cord / abnormalities
  • Spinal Nerve Roots / abnormalities