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Case Reports
. 2012 Dec;42(12):1502-5.
doi: 10.1007/s00247-012-2458-3. Epub 2012 Aug 14.

Cochlear abnormality in a case of Pallister-Hall syndrome

Shivaram Avula  1 , Nusrat Alam, Elaine Roberts
Affiliations
Case Reports

Cochlear abnormality in a case of Pallister-Hall syndrome

Shivaram Avula et al. Pediatr Radiol. 2012 Dec.

Abstract

Pallister-Hall syndrome (PHS) is a rare condition characterised by anomalies including hypothalamic hamartoma, bifid epiglottis and postaxial polydactyly. Hearing loss has been recognised in this condition. Cochlear abnormalities have been described in mouse models of PHS, but there are no reports of similar findings in humans to date. This report describes a case of PHS with bilateral cochlear hypoplasia as seen on MRI.

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