| Literature DB >> 22696705 |
Vishal V Ramteke1, Pramod A Darole, Zohaib Farooqui Shaikh, Namita J Padwal, Brijesh Agrawal, Makardhwaj S Shrivastava, Sandhya Kamath.
Abstract
Acrocallosal syndrome is an extremely rare genetic disorder with autosomal recessive inheritance. It is characterised by moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism. The authors report a case of a young hypertensive male who presented with unprovoked seizures for the first time who had multiple craniofacial, digital dysmorphic features with moderate mental retardation. The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.Entities:
Mesh:
Year: 2011 PMID: 22696705 PMCID: PMC3089937 DOI: 10.1136/bcr.12.2010.3648
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X