Arthrogryposis multiplex congenita (AMC), called fetal akinesia sequence (FAS) in this study of 5 lethal cases, was associated with a distinctive neuropathological pattern, named type III lissencephaly syndrome, as reported from the Hopital Henri Mondor, Creteil, and the Hopitals Port Royal and Saint Antoine, Paris, France. In this group of primary neurogenic FAS a diffuse neurodegenerative process affected the cerebrum and spinal cord, causing brain atrophy, hydrocephalus, microcephaly, and gyral reduction. Parental consanguinity was present in one case, and 2 cases occurred in sibs, suggesting a genetic, autosomal recessive, cause. Polyhydramnios, intrauterine growth retardation, severe arthrogryposis, and pulmonary hypoplasia was present in all 5 cases. The developmental abnormalities are thought to be secondary to fetal akinesia. [1]
COMMENT. In a prospective study of 89 infants with arthrogryposis multiplex congenita, Banker (1986) found 84 neurogenic in type. The present authors emphasize the heterogeneous nature of the syndrome, with special attention to neurodegenerative familial cases.