Jiang Li and Shilpa Shivakumar contributed equally to this work.
Article first published online: 13 JUL 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 143A, Issue 16, pages 1900–1905, 15 August 2007
How to Cite
Li, J., Shivakumar, S., Wakahiro, M., Mukherjee, P., Barkovich, A. J., Slavotinek, A. and Sherr, E. H. (2007), Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to Temtamy syndrome. Am. J. Med. Genet., 143A: 1900–1905. doi: 10.1002/ajmg.a.31855
How to cite this article: Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. 2007. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to Temtamy syndrome. Am J Med Genet Part A 143A:1900–1905.
- Issue published online: 25 JUL 2007
- Article first published online: 13 JUL 2007
- Manuscript Accepted: 9 APR 2007
- Manuscript Received: 30 OCT 2006
- NIH and March of Dimes
- National Center for Research Resources. Grant Number: 5 M01 RR-01271
- US Public Health Service
- agenesis of the corpus callosum (ACC);
- Temtamy syndrome;
- optic coloboma;
- homozygosity mapping;
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.