Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles
| Autor: | Lucilene Arilho Ribeiro, Sthella Zanchetta, Neivo Luiz Zorzetto, Antonio Richieri-Costa, Melissa Zattoni Antoneli |
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| Rok vydání: | 2006 |
| Předmět: |
Male
medicine.medical_specialty Adolescent Kruppel-Like Transcription Factors Nerve Tissue Proteins Zinc Finger Protein Gli2 Audiology Central nervous system disease Audiometry Holoprosencephaly Evoked Potentials Auditory Brain Stem otorhinolaryngologic diseases Genetics Humans Medicine Hedgehog Proteins Child Eye Proteins Genetics (clinical) Homeodomain Proteins Vestibular system medicine.diagnostic_test business.industry Infant Nuclear Proteins Magnetic resonance imaging Tympanometry medicine.disease Magnetic Resonance Imaging Reflex Acoustic Auditory brainstem response Acoustic Impedance Tests Child Preschool Mutation Female Brainstem business |
| Zdroj: | American Journal of Medical Genetics Part A. :2142-2145 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.31296 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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