Porteous M E, Cross I, Burn J
Department of Human Genetics, University of Newcastle upon Tyne, United Kingdom.
Am J Med Genet. 1992 Aug 1;43(6):1032-4. doi: 10.1002/ajmg.1320430624.
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.
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。
