TORIELLO-CAREY SYNDROME IN A TURKISH NEWBORN

Uras N., Sandal G., Oguz S., Aydemir Ö., Erdeve O., Dilmen U.

GENETIC COUNSELING, vol.20, no.3, pp.243-247, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 3
  • Publication Date: 2009
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.243-247
  • Eskisehir Osmangazi University Affiliated: No

Abstract

Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by 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 the findings in a Turkish newborn, presumed to be another example of the Toriello-Carey syndrome, which extends the phenotype of the syndrome.