Mid-Portion Agenesis of Corpus Callosum in a Presumed Baller-Gerold Syndrome

Abstract

We report an association of trigonocephaly and thumb hypoplasia in a 6.5-year-old boy, diagnosed as Baller-Gerold syndrome. In addition to craniosynostosis and radial limb defect, which are constant in this syndrome, our patient presents two unusual features: the first is an epidermal nevus and the second is an agenesis of the middle portion of corpus callosum. This unique type of callosal agenesis in the context of a polymalformative disorder supports the hypothesis that partial agenesis of corpus callosum may be due to an event occurring before the 12th week gestation with continued development of the midline structures.

Key words

Agenesis of corpus callosum - Baller-Gerold syndrome - Craniosynostosis - Thumb hypoplasia - Epidermal nevus