Cochlear abnormality in a case of Pallister-Hall syndrome

被引:0
作者
Shivaram Avula
Nusrat Alam
Elaine Roberts
机构
[1] Alder Hey Children’s Hospital NHS Foundation Trust,Department of Radiology
[2] Alder Hey Children’s Hospital NHS Foundation Trust,Department of Audiology
来源
Pediatric Radiology | 2012年 / 42卷
关键词
Pallister-Hall syndrome; Cochlear hypoplasia; Deafness;
D O I
暂无
中图分类号
学科分类号
摘要
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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页码:1502 / 1505
页数:3
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