Department of Radiology, Alder Hey Children's Hospital NHS Foundation Trust, Eaton Road, Liverpool, L12 2AP, UK.
Pediatr Radiol. 2012 Dec;42(12):1502-5. doi: 10.1007/s00247-012-2458-3. Epub 2012 Aug 14.
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.
帕利斯特-霍尔综合征（PHS）是一种罕见的疾病，其特征包括下丘脑错构瘤、二裂会厌和后轴多指畸形。该病症中已确认存在听力损失。在 PHS 的小鼠模型中已经描述了耳蜗异常，但迄今为止尚无人类类似发现的报告。本报告描述了一例 PHS 病例，MRI 显示双侧耳蜗发育不良。
