双侧完全性迷路发育不全伴双侧颈内动脉发育不全、发育迟缓及眼球异常：一种罕见的 HOXA1 突变综合征的推测病例。
Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome.
机构信息
Department of Radiology, Phoenix Children's Hospital, Arizona 85016, USA.
出版信息
AJNR Am J Neuroradiol. 2011 Feb;32(2):E23-5. doi: 10.3174/ajnr.A1969. Epub 2010 Jan 14.
Abstract
The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and ICAs. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetric involvement. We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported.
摘要
人类 HOXA1 突变综合征常伴有内耳和颈内动脉（ICA）异常。既往病例描述了受累结构的不同程度的发育不良或发育不全，常伴有不对称受累。我们呈现的影像学发现记录了双侧 ICA 完全缺失伴双侧 CLA，据我们所知，这在以前的报道中尚未出现过。
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本文引用的文献
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AJNR Am J Neuroradiol. 2009 Apr;30(4):774-80. doi: 10.3174/ajnr.A1426. Epub 2009 Jan 15.
2
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3
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4
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