Arthrogryposis Multiplex Congenita

Abstract

Introduction Arthrogryposis Multiplex Congenita is a syndrome which is characterized by congenital fixation of multiple joints. A number of associated neuromuscular and skeletal defects have been reported in affected individuals. The syndrome is not rare, and the clinical aspects have been described previously. From the few autopsy studies reported in the literature, it is clear that arthrogryposis may occur in a setting either of anterior horn cell disease or of primary disease of muscle. However, very few critical postmortem studies have been made, and the relationship of neural and muscular abnormalities to the manifest joint deformities poses many intriguing problems. We have had the opportunity to study pathologically a newborn infant with the neural form of arthrogryposis multiplex congenita. We wish to present our case partly because of the scarcity of well-studied autopsy material, but especially because our findings may provide a clue to the relationship between central nervous system