Neonatal paroxysmal trismus and camptodactyly: The Crisponi syndrome

American Journal of Medical Genetics

Volumn 133 A, Issue 1, 2005, Pages 90-92

  Nannenberg, Eline A ^a   Bijlmer, Rob ^a   Van Geel, Bjorn M ^a   Hennekam, Raoul C M ^a,b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Camptodactyly; Crisponi syndrome; GABA receptor; Hyperekplexia; Hypertonia; Neonatal; Paroxysmal; Sleep apnea; St ve Wiedemann syndrome; Transient; Trismus; Upper airway obstructions

Indexed keywords

ANAMNESIS; APNEA; AUTOSOMAL RECESSIVE INHERITANCE; CAMPTODACTYLY; CASE REPORT; CRISPONI SYNDROME; ELECTROENCEPHALOGRAM; GROWTH RETARDATION; HUMAN; HYPERTHERMIA; ITALY; MALE; MICROCEPHALY; MICROGNATHIA; MUSCLE CONTRACTION; MUSCLE HYPERTONIA; NEWBORN DISEASE; POLYSOMNOGRAPHY; PORTUGAL; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SCOLIOSIS; TRISMUS; UMBILICAL HERNIA;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; EYE ABNORMALITIES; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; SYNDROME; TRISMUS;

EID: 12944277036     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30536     Document Type: Review

References (4)

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3. 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.
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