title: Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles.
abstract: 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.
authors.affiliation: Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.
authors.forename: Melissa Z
authors.initials: MZ
authors.lastname: Antoneli
authors.forename: Sthella
authors.initials: S
authors.lastname: Zanchetta
authors.forename: Neivo L
authors.initials: NL
authors.lastname: Zorzetto
authors.forename: Lucilene A
authors.initials: LA
authors.lastname: Ribeiro
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D000158:Acoustic Impedance Tests; D000293:Adolescent; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D016057:Evoked Potentials, Auditory, Brain Stem; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D053823:Hedgehog Proteins / Q000235:genetics; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D051741:Kruppel-Like Transcription Factors / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D012022:Reflex, Acoustic; D000075746:Zinc Finger Protein Gli2; D000097607:Homeobox Protein SIX3
chemical_list: D005136:Eye Proteins; D053823:Hedgehog Proteins; D018398:Homeodomain Proteins; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D000075746:Zinc Finger Protein Gli2; D000097607:Homeobox Protein SIX3; C082593:GLI2 protein, human