它是一种新的综合征还是脑眼鼻综合征的临床变异性？
Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome?
作者信息
Semerci C Nur, Zorlu Pelin, Topal Yasar, Izbudak Izlem, Karacan Candemir, Balci Sevim
机构信息
Department of Genetics, Zübeyde Hanim Maternity Hospital, Ankara, Turkey.
出版信息
Am J Med Genet A. 2003 Jul 15;120A(2):253-5. doi: 10.1002/ajmg.a.20232.
PMID:12833409
Abstract
We present a male infant 2.5-months old with asymmetric skull, anophthalmia, apparent hypertelorism, abnormal nares, unilateral cleft lip and palate, and structural abnormalities of the central nervous system. These findings are similar to cerebro-oculo-nasal syndrome except for the appearance of nose. This case is either a clinical variability in cerebro-oculo-nasal syndrome or a new entity.
摘要
我们报告一名2.5个月大的男婴，患有颅骨不对称、无眼畸形、明显的眼距过宽、鼻孔异常、单侧唇腭裂以及中枢神经系统结构异常。除鼻子外观外，这些表现与脑-眼-鼻综合征相似。该病例要么是脑-眼-鼻综合征的临床变异型，要么是一种新的疾病实体。
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