Crisponi syndrome: Report of a further patient

Crisponi syndrome was described in the original paper in 17 patients form 12 families [Crisponi, 1996: Am J Med Genet 62:365–371]. It is characterised by episodes of muscle contraction in response to external stimuli and intermittent hypethermia with neonatal onset. The disease is often lethal in the first infancy. We describe a patient with the same unusual phenotype. © 2003 Wiley‐Liss, Inc.