Crisponi syndrome: report of a further patient

Am J Med Genet A. 2003 Dec 1;123A(2):183-5. doi: 10.1002/ajmg.a.20292.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / pathology*
  • Fatal Outcome
  • Female
  • Fever / physiopathology*
  • Humans
  • Infant, Newborn
  • Muscle Contraction / physiology*
  • Syndrome
  • Trismus / physiopathology