Brain anomalies in velo-cardio-facial syndrome

R. J. Mitnick, J. A. Bello, R. J. Shprintzen

Research output: Contribution to journalArticlepeer-review

108 Scopus citations

Abstract

Magnetic resonance imaging of the brain in 11 consecutively referred patients with velo-cardio-facial syndrome (VCF) showed anomalies in nine cases including small vermis, cysts adjacent to the frontal horns, and small posterior fossa. Focal signal hyperintensities in the white matter on long TR images were also noted. The nine patients showed a variety of behavioral abnormalities including mild developmental delay, learning disabilities, and characteristic personality traits typical of this common multiple anomaly syndrome which has been related to a microdeletion at 22q11. Analysis of the behavioral findings showed no specific pattern related to the brain anomalies, and the patients with VCF who did not have detectable brain lesions also had behavioral abnormalities consistent with VCF. The significance of the lesions is not yet known, but the high prevalence of anomalies in this sample suggests that structural brain abnormalities are probably common in VCF.

Original languageEnglish (US)
Pages (from-to)100-106
Number of pages7
JournalAmerican journal of medical genetics
Volume54
Issue number2
DOIs
StatePublished - Jun 8 1994

Keywords

  • 22q11
  • MRI
  • brain
  • learning disabilities
  • personality disorders
  • schizophrenia
  • velo-cardio-facial syndrome
  • vermis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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