Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to Temtamy syndrome

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.