Literature DB >> 22890695

Cochlear abnormality in a case of Pallister-Hall syndrome.

Shivaram Avula1, Nusrat Alam, Elaine Roberts.   

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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Year:  2012        PMID： 22890695     DOI： 10.1007/s00247-012-2458-3

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


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7.  Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans.

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Authors:  J G Hall; P D Pallister; S K Clarren; J B Beckwith; F W Wiglesworth; F C Fraser; S Cho; P J Benke; S D Reed
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  8 in total
  2 in total

1.  Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3.

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Review 2.  Development and Patterning of the Cochlea: From Convergent Extension to Planar Polarity.

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  2 in total

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