Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome

Clin Dysmorphol. 2011 Oct;20(4):187-9. doi: 10.1097/MCD.0b013e328348836c.

Abstract

Crisponi syndrome is a recently described rare autosomal recessive disorder. The main clinical features of the syndrome are neonatal onset of episodic contractions of the facial muscles with trismus and abundant salivation resembling a tetanic spasm. 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. The parents of the patient were consanguineous, supporting autosomal recessive inheritance. Molecular analysis revealed a homozygous mutation in cytokine receptor-like factor-1 gene in the patient.

Publication types

  • Case Reports

MeSH terms

  • Death, Sudden
  • Exons
  • Facies
  • Fever / diagnosis
  • Fever / genetics*
  • Frameshift Mutation / genetics*
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics*
  • Homozygote*
  • Humans
  • Hyperhidrosis
  • Infant, Newborn
  • Male
  • Muscle Contraction / genetics
  • Phenotype
  • Receptors, Cytokine / genetics*
  • Trismus / congenital*
  • Trismus / diagnosis
  • Trismus / genetics
  • Turkey

Substances

  • Receptors, Cytokine
  • cytokine-like factor-1

Supplementary concepts

  • Crisponi syndrome