"C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review

Am J Med Genet. 1995 Mar 27;56(2):215-8. doi: 10.1002/ajmg.1320560220.


We report on a new case of the Opitz "C" trigonocephaly syndrome. Our patient had agenesis of the corpus callosum, an anomaly seen only twice previously, and tetralogy of Fallot, described only once before. A review shows that a combination of conotruncal heart defects and midline brain anomalies characterizes patients with this entity.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Agenesis of Corpus Callosum*
  • Craniosynostoses / diagnosis*
  • Craniosynostoses / genetics
  • Fatal Outcome
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Syndrome
  • Tetralogy of Fallot / diagnosis*
  • Tetralogy of Fallot / diagnostic imaging
  • Tetralogy of Fallot / genetics
  • Tomography, X-Ray