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Crisponi syndrome: Report of a further patient

✍ Scribed by Accorsi, P. ;Giordano, L. ;Faravelli, F.

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
58 KB
Volume
123A
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

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. Β© 2003 Wiley‐Liss, Inc.

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