[Very severe spinal muscular atrophy--type 0. A cause of congenital multiple arthrogryposis]. / Meget svaer spinal muskelatrofi--type 0. En årsag til arthrogryposis multiplex congenita.

A female infant born at term, with reduced fetal movements in utero, congenital multiple contractures, severe weakness at birth, and a short time of survival is described. The diagnosis was confirmed by identification of homozygous deletion of exons 7 and 8 of the SMNt gene. Severe spinal muscular atrophy should be considered in the differential diagnosis of reduced fetal movements.