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Keywords:

  • agenesis of the corpus callosum (ACC);
  • Temtamy syndrome;
  • optic coloboma;
  • homozygosity mapping;
  • MRI

Abstract

Agenesis of the corpus callosum (ACC) is a common brain anomaly with a birth incidence of at least 1 in 4,000. ACC can occur as an isolated malformation or as a component of a syndrome. Here, we report on an autosomal recessive syndrome with ACC, optic coloboma, craniofacial dysmorphism, skeletal anomalies, and intractable seizures in a brother and sister from a consanguineous family. Homozygosity mapping excluded three genes, VAX1, ASXL2, and ZNF462, which have previously been implicated in ACC with optic coloboma. This case presents many features similar to Temtamy syndrome and will help in establishing the spectrum of this disorder. © 2007 Wiley-Liss, Inc.