title: Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.
abstract: 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. Recently, it has been demonstrated that CRLF1 (cytokine receptor-like factor 1) gene mutation is associated with CS. Here we report a case of CS with a new mutation in the CRLF1 gene associated with moderate clinical phenotype.
authors.affiliation: Department of Neonatology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Uzunalic
authors.forename: A
authors.initials: A
authors.lastname: Zenciroglu
authors.forename: S
authors.initials: S
authors.lastname: Beken
authors.forename: R
authors.initials: R
authors.lastname: Piras
authors.forename: D
authors.initials: D
authors.lastname: Dilli
authors.forename: B
authors.initials: B
authors.lastname: Aydin
authors.forename: F
authors.initials: F
authors.lastname: Chiappe
authors.forename: N
authors.initials: N
authors.lastname: Okumus
authors.forename: L
authors.initials: L
authors.lastname: Crisponi
mesh_terms: D003645:Death, Sudden; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D005334:Fever / Q000235:genetics*; D005838:Genotype; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D006945:Hyperhidrosis; D007223:Infant; D009119:Muscle Contraction / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D018121:Receptors, Cytokine / Q000235:genetics*; D014313:Trismus / Q000151:congenital* / Q000235:genetics
chemical_list: D018121:Receptors, Cytokine; C113554:cytokine-like factor-1