HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Lethal arthrogryposis with anterior horn cell disease.

Abstract
Fifteen infants (11 families) with lethal arthrogryposis and anterior horn motor neuron loss are described. The clinical presentation was the fetal akinesia deformation sequence (FADS) with multiple contractures and facial anomalies. At autopsy neurogenic muscular atrophy was present in all infants. The spinal cord showed a paucity of anterior horn motor neurons in the 12 infants studied. Both male and female infants were affected. Nine cases were sporadic, whereas in two families there were three affected cases. Consanguinity between the parents was reported in one family with one affected child. This and the recurrence of the condition speak for autosomal recessive inheritance. Detailed neuropathological examination and documentation of the clinical features are needed for a better delineation of and genetic counseling for perinatally lethal arthrogryposis.
AuthorsK Vuopala, J Ignatius, R Herva
JournalHuman pathology (Hum Pathol) Vol. 26 Issue 1 Pg. 12-9 (Jan 1995) ISSN: 0046-8177 [Print] United States
PMID7821908 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Arthrogryposis (complications, mortality, pathology)
  • Brain (pathology)
  • Cadaver
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Muscle, Skeletal (pathology)
  • Spinal Cord (pathology)
  • Spinal Cord Diseases (complications, mortality, pathology)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: