Acrocallosal Syndrome in a 6-Year-Old Iranian Boy

Acrocallosal syndrome is a rare autosomal recessive disorder characterized by hypoplasia /agenesis of corpus callosum, moderate to severe mental retardation, characteristic crainioafacial abnormalities and distinctive digital malformation . Here we report a sixyearold boy with mental retardation , dolicocephally, hypertelorism, strabismus, postaxial polydactyly and agenesis of corpus callosum . With these finding acrocallosal syndrome was suspected and KIF7 gene sequencing was performed,revealing a homozygous deletion inexon 14 of KIF7 gene. Both parents were heterozygous carriers.