LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE

Fifteen infants (11 families) with lethal arthrogryposis and anterior horn motor neuron loss are described. The clinical presentation was th e fetal akinesia deformation sequence (FADS) with multiple contracture s and facial anomalies. At autopsy neurogenic muscular atrophy was pre sent 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 ther e were three affected cases. Consanguinity between the parents was rep orted in one family with one affected child. This and the recurrence o f the condition speak for autosomal recessive inheritance. Detailed ne uropathological examination and documentation of the clinical features are needed for a better delineation of and genetic counseling for per inatally lethal arthrogryposis. HUM PATHOL 26:12-19. Copyright (C) 199 5 by W.B. Saunders Company