Crisponi Syndrome: Report of a Further Patient

American Journal of Medical Genetics

Volumn 123 A, Issue 2, 2003, Pages 183-185

  Accorsi, Patrizia ^a   Giordano, L ^a   Faravelli, F ^b  

^a SPEDALI CIVILI   (Italy)

^b GALLIERA HOSPITAL   (Italy)

Author keywords

Crisponi syndrome; Hypertermia; Muscle contraction

Indexed keywords

APNEA; ARTICLE; BRADYCARDIA; CAMPTODACTYLY; CASE REPORT; CRISPONI SYNDROME; CRYING; DYSPNEA; ELECTROENCEPHALOGRAM; FACE DYSMORPHIA; FACE MUSCLE; FEEDING DISORDER; FEMALE; GASTROESOPHAGEAL REFLUX; GENETIC DISORDER; HUMAN; HYPERTHERMIA; INFANT; MICROGNATHIA; MUSCLE CONTRACTION; NECK MUSCLE; NEUROLOGIC EXAMINATION; NEWBORN DISEASE; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; TACTILE STIMULATION;

GENETTA;

EID: 0242426669     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20292     Document Type: Article

References (5)

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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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