Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome

We describe association of olfactory bulb and olfactory tract abnormalities in a child with acrocallosal syndrome caused by kinesin family membrane 7 (KIF7) mutation in sonic hedgehog pathway. The child also had fontanellar bone in the anterior fontanelle, short sagittal suture, sagittal synostosis, hippocampal malrotation and Joubert malformation. Fontanellar bone has been described inGLI3 mutation and mutant mice models but has not been reported inKIF7 mutation. We briefly review the role of sonic hedgehog pathway and its componentsKIF7 andGLI3 in forebrain and olfactory system development and also describe olfactory system abnormality in a child withGLI3 mutation.
Source: Pediatric Radiology - Category: Radiology Source Type: research