Page 79 - Clinical variability in Noonan syndrome with emphasison ear and eye

Table 3. Hearing impairment
Hearing impairment
Sensorineural hearing impairment
Permanent conductive hearing impairment
Mixed hearing impairment
Temporary conductive hearing impairment
Total hearing impairment
Number of patients (N = 44 out of 97)
9 (20%) 2 (4%) 2 (4%) 20 (44%) 33 (75%)
Range of age
0 - 47 years 11 and 17 years 17 and 25 years 0 -18 years
2 - 47 years
Patients with mutations
8 2 1 18 29
Congenital and progression
C, NP CU, P NC, NP CU,PU C, P NC, P C, NP C, NP C, NP CU, PU CU, PU
Patient and age of onset
1) 0 years 2) 5 years 3) 43 years 4) 47 years 5) 0 years 6) 7 years 7) 5 years 8) 0 years 9) 0 years 10) 17 years 11) 25 years
Type of HI
SNHI SNHI SNHI SNHI SNHI SNHI SNHI SNHI SNHI MHI MHI
Pure Tone Average (mean of 1,2 and 4 kHz)
105 dB 28 dB 27 dB 23 dB 115 dB 37 dB 92 dB 90 dB 125 dB 45 dB 62 dB
Gene
PTPN11 SOS1 PTPN11 SOS1 PTPN11 RAF1 Unknown PTPN11 PTPN11 PTPN11 Unknown
EXTERNAL EAR ANOMALIES AND HEARING IMPAIRMENT IN NOONAN SYNDROME
Table 4. sensorineural hearing impairment and mixed hearing impairment
SNHI = sensorineural hearing impairment,
progressive, NP = not progressive, CU = congenital unclear, PU = progressive unclear.
Discussion
Hearing impairment compared with literature
In 1992 a NS patient with unilateral conductive hearing impairment was reported (5). In the same year a large NS cohort was presented in which the audiological results of 146 patients were described (6). Hearing impairment was found in 58 patients, mostly due to serous otitis media. Of these 146 patients, 5 patients (3%) had sensorineural HI. Another large NS cohort of 151 patients reported hearing impairment in 38% and again most of the cases were associated with otitis media (14). No further specifications about the hearing impairment were given. Our results are in accordance with these
MHI = mixed hearing impairment, C = congenital, NC = non congenital, P =
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