Cochlear implantation in a patient with Noonan syndrome caused by a variant in PTPN 11: a case report
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Abstract: Summary Noonan syndrome is a multisystem disease with widespread heterogeneity regarding the genetic and clinical characteristics, which can be accompanied by distinctive facial dysmorphism, congenital heart defects, short stature, cryptorchidism, lymphatic malformations, bleeding disorders and skeletal malformations. Some patients have hearing impairment. Noonan syndrome is a rare cause of sensorineural hearing loss. The study describes a Noonan syndrome patient with profound bilateral hearing loss. He received a cochlear implantation successfully. The patient had clinical characteristics of Noonan syndrome, and the diagnosis was confirmed by the detection of pathogenic variants in PTPN 11 by whole exome sequencing. According to the authors' knowledge, this is the first report regarding cochlear implantation in a Noonan syndrome patient in China.
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Key words:
- cochlear implantation /
- sensorineural hearing loss /
- Noonan syndrome /
- PTPN 11
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