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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本文引用的文献
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Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.鳃-耳-肾综合征：EYA1基因的突变谱及其表型后果
Hum Mutat. 2004 Jun;23(6):582-9. doi: 10.1002/humu.20048.
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A family with the branchio-oto-renal syndrome: clinical and genetic correlations.一个患有鳃-耳-肾综合征的家族：临床与遗传学关联
Nephrol Dial Transplant. 2002 Jun;17(6):1014-8. doi: 10.1093/ndt/17.6.1014.
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Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.鉴定出与鳃耳肾综合征相关的人类EYA1蛋白中的三种新突变。
Hum Mutat. 1998;11(6):443-9. doi: 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S.
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BOR and BO syndromes are allelic defects of EYA1.BOR综合征和BO综合征是EYA1的等位基因缺陷。
Eur J Hum Genet. 1997 Jul-Aug;5(4):242-6.
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