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Παρασκευή 21 Απριλίου 2017

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11

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Publication date: June 2017
Source:International Journal of Pediatric Otorhinolaryngology, Volume 97
Author(s): Josephine W.I. van Nierop, Dorothée C. van Trier, Ineke van der Burgt, Jos M.T. Draaisma, Emmanuel A.M. Mylanus, Ad F. Snik, Ronald J.C. Admiraal, Henricus P.M. Kunst
Existing literature only reports a few patients with Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) who underwent cochlear implantation (CI). The present study describes four NS patients and one NSML patient with a PTPN11 mutation. They all had severe to profound hearing loss, and they received a CI. The age at which the CI surgery occurred ranged from 1 to 13 years old, and the audiological results in all five patients improved after the CI. Otological and audiological examinations in NS and NSML are important, and for those with severe hearing loss, the CI surgery improved the audiological outcome regardless of age.



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