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CASE REPORT
Year : 2012  |  Volume : 18  |  Issue : 1  |  Page : 38-40

Absent posterior semicircular canal: HRCT feature of Waardenburg syndrome


1 Department of Radiology, IGGMC, Nagpur, India
2 Department of Radiology, SSH, Nagpur, India
3 Department of Radiology, GMC, Nagpur, India
4 Department of Ophtalmology, IGGMC, Nagpur, India

Correspondence Address:
Sandeep M Mahajan
Plot No-1376, Near J. L. Chaturvedi College of Polytechnic, Near Nandanwan Water Tank, New Nandanwan Layout, Nagpur - 09
India
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Source of Support: Departments of Ophthalmology and E.N.T, IGGMC, Nagpur, Conflict of Interest: None


DOI: 10.4103/0971-7749.98300

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Absence of posterior semicircular canal is a rare condition, having been reported with only a few syndromes such as Waardenburg syndrome (WS), Alagellie, CHARGE, and Goldenhaar syndromes. We report a 12- year old male with bilateral absent posterior semicircular canals. These phenotypic characteristics of the patient favored the diagnosis of WS. WS is a rare autosomal dominant condition characterized by sensorineural hearing loss, in conjunction with pigmentary abnormalities and defects of the neural crest-derived tissues. The case is presented for its rarity and for its high resolution computed tomography (HRCT) temporal bone findings so as to reach a precise diagnosis.


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