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Cochlear abnormality in a case of Pallister-Hall syndrome

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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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Authors and Affiliations

  1. Department of Radiology, Alder Hey Children’s Hospital NHS Foundation Trust, Eaton Road, Liverpool, L12 2AP, UK

    Shivaram Avula & Nusrat Alam

  2. Department of Audiology, Alder Hey Children’s Hospital NHS Foundation Trust, Eaton Road, Liverpool, L12 2AP, UK

    Elaine Roberts

Authors
  1. Shivaram Avula
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  2. Nusrat Alam
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  3. Elaine Roberts
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Correspondence to Shivaram Avula.

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Avula, S., Alam, N. & Roberts, E. Cochlear abnormality in a case of Pallister-Hall syndrome. Pediatr Radiol 42, 1502–1505 (2012). https://doi.org/10.1007/s00247-012-2458-3

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  • DOI: https://doi.org/10.1007/s00247-012-2458-3

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