ODLURO syndrome: personal experience and review of the literature.
Renata ConfortiSilvia IovineGabriella SantangeloRaffaella CapassoMario CirilloMario FrattaFerdinando CaranciPublished in: La Radiologia medica (2020)
Our study adds 3 new patients genetically, clinically, and radiologically evaluated to the ODLURO syndrome case series. While CC hypoplasia and widening of subarachnoid spaces are already reported in literature, we document for the first time the presence of cerebellar dysplasia in ODLURO syndrome. We also highlight the extremely low IQ value and the presence of epilepsy in all 3 patients.