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Background: Baraitser–Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). In the literature, two types of this condition are reported, Baraitser–Winter type 1 (BRWS1) and type 2 (BRWS2) produced by specific pathogenetic variants of two different genes, ACTB for BRWS1 and ACTG1 for BRWS2. In addition to syndromic BRWS2, some pathogenic variants in ACTG1 are associated also to another pathologic entity, the "Autosomal dominant non-syndromic hearing loss 20/26". In these syndromes, typical craniofacial features, sensory impairment (vision and hearing) and intellectual disabilities are frequently present. Heart anomalies, renal and gastrointestinal involvement and seizure are also common. Wide inter- and intra-familial variety in the phenotypic spectrum is reported. Some phenotypic aspects of these syndromes are not yet fully described, such as the degree and progression of HL, and better knowledge of them could be useful for correct follow-up and treatment. Methods and Results: In this study, we report two cases of children with HL and diagnosis of BRWS and a review of the current literature on HL in these syndromes. [ABSTRACT FROM AUTHOR]

There are several pathologies that can change the anatomy of the otic capsule and that can distort the bone density of the bony structures of the inner ear, but otosclerosis is one of the most frequent. Similar behavior has been shown in patients affected by osteogenesis imperfecta (OI), a genetic disorder due to a mutation in the genes coding for type I (pro) collagen. In particular, we note that otosclerosis and OI can lead to bone resorption creating pericochlear cavitations in contact with the internal auditory canal (IAC). In this regard, we have collected five cases presenting this characteristic; their audiological data and clinical history were analyzed. This feature can be defined as a potential cause of a third-window effect, because it causes an energy loss during the transmission of sound waves from the oval window (OW) away from the basilar membrane. [ABSTRACT FROM AUTHOR]

Purpose: Time course of the recovery of otolithic dis-function caused by superior vestibular neuritis has been examined in fifteen patients. Methods: The subjective visual vertical (SVV) and the ocular cyclotorsion (OT) have been measured four times after the acute episode up to 1 year Results: In most of the patients the SVV tilt returned to control values within few months (3–6 months) after the acute episode, while OT remained out of normal range in almost all patients a year later. Conclusion: The abnormal OT observed after 1 year from the acute episode of vestibular neuritis, suggests that the otolithic receptors remained altered for several months and the OT may be a good indicator of the entity of the residual peripheral otolithic lesion. Moreover, the dissociation between the SVV tilt recovery and that of OT supports the issue that the two signs of the otolithic disfunction are only partially linked each other with centrally or peripherally distinct re-balancing circuits. [ABSTRACT FROM AUTHOR]