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

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.

• Authors: 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
• Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol) Vol. 97 Pg. 228-234 (Jun 2017) ISSN: 1872-8464 [Electronic] Ireland
• PMID: 28483241 (Publication Type: Journal Article)
• Copyright: Published by Elsevier B.V.

Chemical References

• PTPN11 protein, human
• Protein Tyrosine Phosphatase, Non-Receptor Type 11

Topics

• Adolescent
• Audiometry
• Child
• Child, Preschool
• Cochlear Implantation (methods)
• Female
• Hearing Loss (surgery)
• Humans
• Infant
• LEOPARD Syndrome (genetics, therapy)
• Male
• Mutation
• Noonan Syndrome (diagnosis, genetics, therapy)
• Protein Tyrosine Phosphatase, Non-Receptor Type 11 (genetics)
• Retrospective Studies