Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles.

This study evaluated audiological and electrophysiological profiles in 13 patients with holoprosencephaly. All patients had imaging evaluation by magnetic resonance imaging and molecular screening for the genes SHH, GLI2, and SIX3. Each patient underwent clinical (otological and vestibular antecedents, otoscopy) and instrumental (tympanometry, auditory brainstem response--ABR) evaluation to compare hearing and the electrophysiological profile possibly occurring in patients with these mutations. To our knowledge there are no systematic studies correlating molecular/imaging and evoked potentials in patients with HPE. Here, we discuss the audiological and electrophysiological profiles of patients and the possible role of the genes studied on the overall findings.