Table 2.
Congenital malformations of the middle and inner ear and hearing status of mutation-positive patients with Myhre syndrome
| Ear findings | Patients with abnormality/patients in the literature, (%) |
|---|---|
| Congenital malformations or other abnormalities of the middle and inner ear | 6/67 (8.9) |
| Dysplasia of the external semicircular canal, with a thick stapedial footplate fused with the oval window | 1/67 (1.4) |
| Otospongiosis and vestibular schwannoma | 1/67 (1.4) |
| Ossicular fixation | 1/67 (1.4) |
| Chronic inflammatory aspects, thickened tympanic membrane, and mastoid sclerosis | 1/67 (1.4) |
| Small and dysplastic lateral semicircular canals | 1/67 (1.4) |
| Enlarged vestibular aqueduct | 1/67 (1.4) |
| Hearing loss | 52/67 (77.6) |
Includes Whiteford et al. [2001], Burglen et al. [2003], Kenis et al. [2014], 54 cases of the literature reviewed by Lin et al. [2016] and the additional cases by Garavelli et al. [2016], Nomura et al. [2017], Alagia et al. [2018], Erdem et al. [2018], Alape et al. [2019], Artemios et al. [2019], Yu et al. [2019], and the present case.