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

There is no fulltext present in this item.

Title:	Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11
Author(s):	Nierop, J.W.I. van ; Trier, D.C. van ; Burgt, I. van der ; Draaisma, J.M.T. ; Mylanus, E.A.M. ; Snik, A.F.M. ; Admiraal, R.J.C. ; Kunst, H.P.M.
Publication year:	2017
Source:	International Journal of Pediatric Otorhinolaryngology, vol. 97, (2017), pp. 228-234
ISSN:	0165-5876
DOI:	https://doi.org/10.1016/j.ijporl.2017.04.024
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/174059
Display more details
Subject:	Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience Radboudumc 16: Vascular damage RIMLS: Radboud Institute for Molecular Life Sciences Radboudumc 18: Healthcare improvement science RIHS: Radboud Institute for Health Sciences Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Organization:	Otorhinolaryngology Paediatrics Paediatrics - OUD tm 2017 Human Genetics
Journal title:	International Journal of Pediatric Otorhinolaryngology
Volume:	vol. 97
Page start:	p. 228
Page end:	p. 234
Abstract:	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.