Familial superior canal dehiscence syndrome.

Autor:	Niesten ME; Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Center, Utrecht, the Netherlands2Braincenter Rudolf Magnus, Utrecht, the Netherlands3Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts4Departmen., Lookabaugh S; Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston., Curtin H; Department of Radiology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston., Merchant SN; Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts4Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston., McKenna MJ; Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts4Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston., Grolman W; Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Center, Utrecht, the Netherlands2Braincenter Rudolf Magnus, Utrecht, the Netherlands., Lee DJ; Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts4Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston.
Jazyk:	angličtina
Zdroj:	JAMA otolaryngology-- head & neck surgery [JAMA Otolaryngol Head Neck Surg] 2014 Apr; Vol. 140 (4), pp. 363-8.
DOI:	10.1001/jamaoto.2013.6718
Abstrakt:	Importance: The etiology of superior canal dehiscence (SCD) involving the arcuate eminence is not completely understood, but genetic factors may play a role. One hypothesis is that patients are born with a defect of the superior canal, and an acute event (such as head trauma) or progressive loss of bone (eg, due to dural pulsations) may result in the onset of SCD symptoms. Familial SCD has only been briefly mentioned in the literature to date. Observations: We report 3 families that each had 2 members with SCD syndrome. We found that first-degree relatives presented with similar complaints and that temporal bone computed tomography scans between relatives showed very similar skull base topography and anatomic SCD defects. Conclusions and Relevance: 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.
Databáze:	MEDLINE
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