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Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles
Author(s) -
Antoneli Melissa Z.,
Zanchetta Sthella,
Zorzetto Neivo L.,
Ribeiro Lucilene A.,
RichieriCosta Antonio
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31296
Subject(s) - electrophysiology , holoprosencephaly , brainstem , tympanometry , medicine , audiology , auditory brainstem response , vestibular system , magnetic resonance imaging , hearing loss , radiology , audiometry , biology , genetics , pregnancy , fetus
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. © 2006 Wiley‐Liss, Inc.