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

被引：6
|
作者：
van Nierop, Josephine W. I. [1 ,3 ]
van Trier, Dorothee C. [4 ]
van der Burgt, Ineke [5 ]
Draaisma, Jos M. T. [4 ]
Mylanus, Emmanuel A. M. [1 ,2 ]
Snik, Ad F. [2 ]
Admiraal, Ronald J. C. [1 ,3 ]
Kunst, Henricus P. M. [1 ,3 ]
机构：
[1] Radboud Univ Nijmegen, Med Ctr, Dept Otorhinolaryngol Head & Neck Surg, POB 9101, NL-6500 HB Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
[3] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, Nijmegen, Netherlands
[4] Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Dept Pediat, Nijmegen, Netherlands
[5] Radboud Univ Nijmegen, Med Ctr, Dept Genet, Nijmegen, Netherlands
来源：
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2017年 / 97卷
关键词：
Cochlear implantation; Noonan syndrome; Noonan syndrome with multiple lentigines; PTPN11; LEOPARD-SYNDROME; HEARING IMPAIRMENT; RASOPATHIES; ANOMALIES;
D O I：
10.1016/j.ijporl.2017.04.024
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
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. Published by Elsevier Ireland Ltd.
引用
收藏
页码：228 / 234
页数：7
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