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肛门闭锁伴主动脉弓中断的22q11.2微缺失综合征一例
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Pediatric Surgery
- Issue:
- 5
- DOI:
- 10.3760/cma.j.issn.0253-3006.2014.05.019
- Key Word:
- No keyword available
Abstract： 22q1 1.2微缺失综合征是一组由染色体22q11.2微缺失引起的临床综合征[1],它在活产儿中的发生率为1/4 000.临床表现多为颜面畸形、心脏圆锥隔畸形、胸腺发育不良、唇腭裂、低钙血症及精神行为异常等.以往有不同的命名如DiGeroge综合征、腭-心-面综合征、CATCH-22综合征等.随着人们认识的加深,越来越多的患22q11.2微缺失综合征的患儿得以诊断,其临床表现也增加了许多,几乎所有的脏器均有涉及,如先天性肛门闭锁,但同时合并主动脉弓中断及肛门闭锁未见报道.
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