Page 83 - Clinical variability in Noonan syndrome with emphasison ear and eye

EXTERNAL EAR ANOMALIES AND HEARING IMPAIRMENT IN NOONAN SYNDROME
Conclusion
Congenital HI is a problem in NS patients, but we know that during childhood or adulthood hearing impairment may also develop or show progression. In this retrospective cohort of 97 patients, only 44 had been visiting an otorhinolaryngologist and even fewer patients underwent hearing examinations. This confirms our hypothesis that HI in NS is still an underestimated problem. Although HI is not a life threatening disease, it is very important for development and speech of any child. Audiological examination is recommended in NS patients (19), especially when clinical signs of HI are presented. Furthermore, since HI in NS has been found to be progressive in some patients, in those patients with known HI, follow up examinations are strongly recommended.
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