Familial Superior Canal Dehiscence Syndrome

Niesten, Marlien E F; Lookabaugh, Sarah; Curtin, Hugh D.; Merchant, Saumil N.; McKenna, Michael J.; Grolman, Wilko; Lee, Dong Hoon

doi:10.1001/jamaoto.2013.6718

Cited by 26 publications

(21 citation statements)

References 17 publications

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“…SCDS affects both ears in about 25% of patients, also consistent with congenital predisposition (33). Although there are a few cases of familial SCDS (34, 35) and a new report that indicates a high prevalence of canal dehiscence in patients with CDH23 variants (Usher syndrome type 1D) (36), strong genetic correlates have not been identified.…”

Section: Etiologymentioning

confidence: 99%

“…It appears that the hearing loss does not significantly change over time (68). There have been reported cases of worsening conductive hearing loss over time and cases have been reported in which symptoms progressed over many years (35, 47, 69), while at least one case developed rapid mixed hearing loss (70). If SCDS is related to a congenital predisposition, patients may develop worsening symptoms as the dehiscence becomes larger with increasing age.…”

Section: Symptomsmentioning

confidence: 99%

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Superior Canal Dehiscence Syndrome: Lessons from the First 20 Years

2017

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Superior semicircular canal dehiscence syndrome was first reported by Lloyd Minor and colleagues in 1998. Patients with a dehiscence in the bone overlying the superior semicircular canal experience symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. The initial series of patients were diagnosed based on common symptoms, a physical examination finding of eye movements in the plane of the superior semicircular canal when ear canal pressure or loud tones were applied to the ear, and high-resolution computed tomography imaging demonstrating a dehiscence in the bone over the superior semicircular canal. Research productivity directed at understanding better methods for diagnosing and treating this condition has substantially increased over the last two decades. We now have a sound understanding of the pathophysiology of third mobile window syndromes, higher resolution imaging protocols, and several sensitive and specific diagnostic tests. Furthermore, we have a treatment (surgical occlusion of the superior semicircular canal) that has demonstrated efficacy. This review will highlight some of the fundamental insights gained in SCDS, propose diagnostic criteria, and discuss future research directions.

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Section: Etiologymentioning

confidence: 99%

Section: Symptomsmentioning

confidence: 99%

Superior Canal Dehiscence Syndrome: Lessons from the First 20 Years

2017

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“…64,74 Several families with multiple members who have been treated for SSCD have been reported. 65 However, the contribution of genes implicated in inner-ear development and familial deafness syndromes, such as the homeobox genes HMX3 and POU3F4, Netrin1, cochlin (COCH), and the solute carrier SLC26A4, to SSCD remains unclear. 28,40,71…”

Section: Etiologymentioning

confidence: 99%

Superior semicircular canal dehiscence syndrome

Brewster

Poe

et al. 2017

Journal of Neurosurgery

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Superior semicircular canal dehiscence (SSCD) syndrome is an increasingly recognized cause of vestibular and/or auditory symptoms in both adults and children. These symptoms are believed to result from the presence of a pathological mobile "third window" into the labyrinth due to deficiency in the osseous shell, leading to inadvertent hydroacoustic transmissions through the cochlea and labyrinth. The most common bony defect of the superior canal is found over the arcuate eminence, with rare cases involving the posteromedial limb of the superior canal associated with the superior petrosal sinus. Operative intervention is indicated for intractable or debilitating symptoms that persist despite conservative management and vestibular sedation. Surgical repair can be accomplished by reconstruction or plugging of the bony defect or reinforcement of the round window through a variety of operative approaches. The authors review the etiology, pathophysiology, presentation, diagnosis, surgical options, and outcomes in the treatment of this entity, with a focus on potential pitfalls that may be encountered during clinical management.

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“…Niesten [25] inform of three families in which the first-degree relatives show superior semicircular canal dehiscences, and El Hadi [7] registered two twins in the series that they studied, with both superior semicircular canal dehiscence and tegmen tympani dehiscence. These events suggest genetic etiology.…”

Section: Discussionmentioning

confidence: 99%

Association between superior semicircular canal dehiscence and other dehiscences in temporal bone

et al. 2020

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Background:The study of the association between superior semicircular canal and other dehiscences in the temporal bone. Materials and methods:We have studied computed tomography of radiologically diagnosed people with superior or posterior semicircular canal dehiscences, in four health centres. In addition, we have studied one isolated human temporal bone, one skull and one cadaver head belonging to the collection of the Department of Human Anatomy and Histology of the University of Zaragoza that had dehiscence in the superior semicircular canal. 2 Results:The most frequent association that we observed was between superior semicircular canal dehiscence and tegmen tympani dehiscence (37.33%). Three cases (two clinical cases and one isolated temporal bone) showed multiple associated dehiscences (tegmen tympani, mastoid antrum, posterior semicircular canal, internal auditory canal, glenoid cavity, tympanum bone and geniculate ganglion) associated with superior semicircular canal dehiscence Conclusions: When the superior semicircular canal dehiscence is associated to other in the petrous bone (tegmen tympani, mastoid antrum, posterior semicircular canal, internal auditory canal…) could be grouped into the same syndrome called "otic capsule syndrome", since they have the same origin and common etiology (otic capsule).

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Familial Superior Canal Dehiscence Syndrome

Abstract: The presence of symptomatic SCD among first-degree relatives and similar skull base topography suggests that genetics may play a role in the etiology of SCD.

Cited by 26 publications

References 17 publications

Superior Canal Dehiscence Syndrome: Lessons from the First 20 Years

Superior Canal Dehiscence Syndrome: Lessons from the First 20 Years

Superior semicircular canal dehiscence syndrome

Association between superior semicircular canal dehiscence and other dehiscences in temporal bone

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