伴有阻塞性睡眠呼吸暂停的鳃-耳-肾综合征
Branchio-oto-renal syndrome with obstructive sleep apnoea.
作者信息
Chavan Arjun, Shastri Aravind R T, Ross-Russell Robert I
机构信息
Paediatrics Department, Addenbrookes Hospital, Cambridge, UK.
出版信息
BMJ Case Rep. 2012 Aug 13;2012:bcr0320091719. doi: 10.1136/bcr.03.2009.1719.
Abstract
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterised by branchial arch anomalies, otological and renal abnormalities. To the best of our knowledge, upper airway obstruction has not been hitherto reported in BOR. The authors report a 19-month-old girl with BOR syndrome with features of severe airway obstruction needing tracheostomy.
摘要
鳃-耳-肾（BOR）综合征是一种罕见的常染色体显性疾病，其特征为鳃弓异常、耳部和肾脏异常。据我们所知，此前尚未有BOR综合征伴上呼吸道梗阻的报道。本文作者报告了一名19个月大患有BOR综合征的女孩，其具有严重气道梗阻的特征，需要进行气管造口术。
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