Clinical Report

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

  1. Jiang Li1,
  2. Shilpa Shivakumar1,
  3. Mari Wakahiro1,
  4. Pratik Mukherjee2,
  5. A. James Barkovich2,
  6. Anne Slavotinek3,
  7. Elliott H. Sherr1,3,*

Article first published online: 13 JUL 2007

DOI: 10.1002/ajmg.a.31855

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 143A, Issue 16, pages 1900–1905, 15 August 2007

Additional Information

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

Author Information

  1. 1

    Department of Neurology, University of California, San Francisco, California

  2. 2

    Department of Radiology, University of California, San Francisco, California

  3. 3

    Department of Pediatrics, University of California, San Francisco, California

*Department of Neurology, University of California, 350 Parnassus Ave, Suite 609, San Francisco, CA 94143.

  1. †

    Jiang Li and Shilpa Shivakumar contributed equally to this work.

  2. ‡

    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.

Publication History

  1. Issue published online: 25 JUL 2007
  2. Article first published online: 13 JUL 2007
  3. Manuscript Accepted: 9 APR 2007
  4. Manuscript Received: 30 OCT 2006

Funded by

  • NIH and March of Dimes
  • National Center for Research Resources. Grant Number: 5 M01 RR-01271
  • US Public Health Service

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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.

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