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Crisponi syndrome: Report of a further patient
Author(s) -
Accorsi P.,
Giordano L.,
Faravelli F.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20292
Subject(s) - medicine , pediatrics , phenotype , disease , genetics , biology , gene
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.