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

Abstract

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.

• Authors: J Glickstein, J Karasik, D G Caride, R W Marion
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 56 Issue 2 Pg. 215-8 (Mar 27 1995) ISSN: 0148-7299 [Print] United States
• PMID: 7625448 (Publication Type: Case Reports, Journal Article, Review)

Topics

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