Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus

American Journal of Medical Genetics, Part A

Volumn 146, Issue 21, 2008, Pages 2831-2834

  Thomas, Niranjan ^a   Danda, Sumita ^a   Kumar, Manish ^a   Jana, Atanu Kumar ^a   Crisponi, Giangiorgio ^b   Meloni, Alessandra ^c   Crisponi, Laura ^c  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; DIAZEPAM; GENOMIC DNA; TETANUS TOXIN;

CAMPTODACTYLY; CRANIOFACIAL MALFORMATION; CRISPONI SYNDROME; DIFFERENTIAL DIAGNOSIS; FACE MUSCLE; INDIA; LETTER; MULTIPLE MALFORMATION SYNDROME; MUSCLE CONTRACTION; MUSCLE SPASM; NEWBORN TETANUS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

BASE SEQUENCE; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; DNA PRIMERS; HUMANS; INDIA; INFANT, NEWBORN; MALE; RECEPTORS, CYTOKINE; SYNDROME; TETANY;

EID: 55849114080     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32487     Document Type: Letter

References (6)

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2. Crisponi G. 1996. Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: A new syndrome? Am J Med Genet 62:365-371.
3. Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F. 2007. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet 80:971-981.
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