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Int J Pediatr Otorhinolaryngol. 2017 Jun;97:228-234. doi: 10.1016/j.ijporl.2017.04.024. Epub 2017 Apr 17.

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

Author information

1
Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Josephine.vannierop@radboudumc.nl.
2
Department of Pediatrics, Radboud University Medical Center, Nijmegen, Amalia Children's Hospital, The Netherlands.
3
Department of Genetics, Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
4
Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
5
Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
6
Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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.

KEYWORDS:

Cochlear implantation; Noonan syndrome; Noonan syndrome with multiple lentigines; PTPN11

PMID:
28483241
DOI:
10.1016/j.ijporl.2017.04.024
[Indexed for MEDLINE]

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