Crisponi syndrome: Report of a further patient
- 28 October 2003
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 123A (2) , 183-185
- https://doi.org/10.1002/ajmg.a.20292
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.Keywords
This publication has 5 references indexed in Scilit:
- Characterization of a long‐term survivor with Stüve‐Wiedemann syndrome and mosaicism of a supernumerary marker chromosomeAmerican Journal of Medical Genetics, 2001
- Clinical homogeneity of the Stüve‐Wiedemann syndrome and overlap with the Schwartz‐Jampel syndrome type 2American Journal of Medical Genetics, 1998
- Schwartz‐Jampel syndrome type 2 and Stüve‐Wiedemann syndrome: A case for “Lumping”American Journal of Medical Genetics, 1998
- Stüve-Wiedemann dysplasia in a 3 1/2-year-old boyAmerican Journal of Medical Genetics, 1996
- Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: A new syndrome?American Journal of Medical Genetics, 1996