title: Bilateral cochlear implantation in children with Noonan syndrome.
abstract: Noonan syndrome is a mostly autosomal dominant inherited disorder, which can be accompanied by hearing disorders or deafness, coagulation disorders, combined heart defects and developmental disorders. We are reporting on two children with an established Noonan syndrome with a severe bilateral hearing loss of respectively 95 and 100 dB and proper findings in the CT/MRI of the petrous bone. After complete otologic and radiologic diagnostics, both children underwent bilateral cochlear implantation successfully. According to the authors' knowledge, this is the first time that cochlear implant therapy is discussed in patients with Noonan syndrome.
authors.affiliation: Klinik für Hals-, Nasen- und Ohrenheilkunde, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany. christian.scheiber@charite.de
authors.forename: C
authors.initials: C
authors.lastname: Scheiber
authors.forename: A
authors.initials: A
authors.lastname: Hirschfelder
authors.forename: S
authors.initials: S
authors.lastname: Gräbel
authors.forename: H
authors.initials: H
authors.lastname: Peters
authors.forename: H
authors.initials: H
authors.lastname: Olze
mesh_terms: D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation; D003638:Deafness / Q000150:complications* / Q000601:surgery*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009634:Noonan Syndrome / Q000150:complications* / Q000235:genetics; D010579:Petrous Bone / Q000033:anatomy & histology; D016133:Polymerase Chain Reaction; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11