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

نویسندگان

  • Jiang Li
  • Shilpa Shivakumar
  • Mari Wakahiro
  • Pratik Mukherjee
  • A James Barkovich
  • Anne Slavotinek
  • Elliott H Sherr
چکیده

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.

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عنوان ژورنال:
  • American journal of medical genetics. Part A

دوره 143A 16  شماره 

صفحات  -

تاریخ انتشار 2007