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Keywords:

  • autosomal recessive inheritance;
  • hypotonia;
  • agenesis of the corpus callosum;
  • cardiomyopathy

Abstract

A new syndrome was identified by Toriello and Carey (Am J Med Genet 31:17–23, 1988), based on the description of four children, three of whom were sibs. The main manifestations included agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia. We describe findings in a patient, presumed to be another case of the Toriello-Carey syndrome, which extend the phenotype of the syndrome.