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.
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