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  • Cited by 2
  • Print publication year: 2005
  • Online publication date: August 2009

1 - Historical overview


The recognition of velo-cardio-facial syndrome (VCFS) as a specific congenital malformation syndrome is a relatively recent development for so common a disorder. The failure to recognize VCFS earlier is probably related to a number of factors. Therefore, with the larger pattern of anomalies going undetected as a syndromic association, many earlier clinicians and researchers reported on the individual components of the syndrome as the focus of investigation, such as the speech problems, immune deficiency, endocrine disorders, and heart anomalies. As molecular genetics research moved forward, a number of candidate genes for the development of heart anomalies were identified. Molecular analysis showed that two of 100 cases studied had 22q11.2 deletions indicating that among people diagnosed as schizophrenic, there were likely to be individuals with VCFS. It was suggested that the psychiatric illness seen in individuals with VCFS was syndrome-specific and therefore was atypical for both schizophrenia and bipolar disorder.

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