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Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to Temtamy syndrome
Author(s) -
Li Jiang,
Shivakumar Shilpa,
Wakahiro Mari,
Mukherjee Pratik,
Barkovich A. James,
Slavotinek Anne,
Sherr Elliott H.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31855
Subject(s) - agenesis of the corpus callosum , coloboma , craniofacial , medicine , corpus callosum , agenesis , anatomy , psychiatry
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.