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.
Divisione di Neuropsichiatria Infantile, A.O. Spedali Civili di Brescia, Piazzale Spedali Civili, 25123 Brescia, Italy. pafivan@libero.it
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Accorsi
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Giordano
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Faravelli
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D005334:Fever / Q000503:physiopathology*; D006801:Humans; D007231:Infant, Newborn; D009119:Muscle Contraction / Q000502:physiology*; D013577:Syndrome; D014313:Trismus / Q000503:physiopathology