伴有脑积水的VACTERL综合征：范可尼贫血异常谱的一端？
VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?
作者信息
Porteous M E, Cross I, Burn J
机构信息
Department of Human Genetics, University of Newcastle upon Tyne, United Kingdom.
出版信息
Am J Med Genet. 1992 Aug 1;43(6):1032-4. doi: 10.1002/ajmg.1320430624.
PMID:1415330
Abstract
Two cases of Fanconi anemia presenting as hydrocephalus are discussed. Both infants had initially been considered to have features of VACTERL. Chromosomal breakage studies should be performed in all cases of VACTERL with hydrocephalus so that Fanconi anemia may be excluded.
摘要
本文讨论了两例表现为脑积水的范可尼贫血病例。两名婴儿最初都被认为具有VACTERL综合征的特征。对于所有患有脑积水的VACTERL综合征病例，都应进行染色体断裂研究，以便排除范可尼贫血。
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