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Crisponi syndrome

Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death
Networked: 10 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Crisponi, Giangiorgio: 4 articles (04/2014 - 05/2007)
2. Crisponi, Laura: 3 articles (04/2014 - 05/2007)
3. Chiappe, Francesca: 2 articles (04/2014 - 05/2007)
4. Usala, Gianluca: 2 articles (04/2014 - 05/2007)
5. Rutsch, Frank: 2 articles (04/2014 - 05/2007)
6. Zampino, Giuseppe: 2 articles (04/2014 - 08/2008)
7. Meloni, Alessandra: 2 articles (11/2008 - 05/2007)
8. Kamien, Benjamin: 1 article (04/2014)
9. Kiliç, Esra: 1 article (04/2014)
10. Paderi, Enrica: 1 article (04/2014)

Related Diseases

1. Fever (Fevers)
01/01/2013 - "Crisponi syndrome (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. "
04/01/2014 - "The infantile presentation of CISS, referred to as Crisponi syndrome (CS), is characterized by facial muscular contractures in response to slight tactile stimuli or during crying, by life-threatening feeding difficulties caused by suck and swallow inabilities, and by intermittent hyperthermia. "
04/01/2014 - "Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis, and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia associated with death in most cases in the first years of life. "
10/01/2011 - "Herein, we report a case of 3-day-old male neonate presenting with trismus, abundant salivation, feeding difficulties, camptodactyly, and hyperthermia, which are consistent with the diagnostic criteria of Crisponi syndrome. "
05/01/2007 - "Crisponi syndrome is a rare autosomal recessive disorder characterized by congenital muscular contractions of facial muscles, with trismus in response to stimuli, dysmorphic features, bilateral camptodactyly, major feeding and respiratory difficulties, and access of hyperthermia leading to death in the first months of life. "
2. Trismus (Lockjaw)
3. Tetanus
4. Sudden Death
5. Central Sleep Apnea (Central Sleep Apnea Syndrome)