A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases

Am J Med Genet. 1988 Jan;29(1):67-76. doi: 10.1002/ajmg.1320290109.


We performed a neuropathological study on 5 fetuses with an autosomal recessive, lethal syndrome of congenital contractures diagnosed by fetal hydrops on ultrasonography. The fetuses showed a typical pattern of malpositioning of hips and knees with occasional pterygia of the neck and elbows. The muscles were hypoplastic and the spinal cords showed severe thinning, most markedly affecting the ventral half. A total loss of axons in the ventral and lateral funiculi, subtotal loss of anterior horn motor neurons with accompanying astrocytosis and astrogliosis, and similar but less severe changes at the brain stem level suggested a degenerative rather than a dysmorphogenetic mechanism. Sensory nuclei and pathways were distinctly less severely affected, if at all. The findings further delineate this condition as a genetically and pathoanatomically distinct autosomal recessive syndrome.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Brain Stem / pathology
  • Contracture / genetics
  • Contracture / pathology*
  • Female
  • Fetal Diseases / genetics
  • Fetal Diseases / pathology*
  • Fetal Movement
  • Humans
  • Male
  • Muscles / pathology
  • Peripheral Nerves / pathology
  • Pregnancy
  • Spinal Cord / pathology
  • Syndrome