Cox P M, Gibson R A, Morgan N, Brueton L A
Department of Histopathology, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.
Am J Med Genet. 1997 Jan 10;68(1):86-90.
We present a dizygotic twin pair each with ventriculomegaly, a radial ray defect and multiple malformations in keeping with the VACTERL association. Molecular studies demonstrated that both are homozygous for IVS4 + 4 A-->T, a mutation in the Fanconi anemia complementation group C gene. This is the first molecular proof that VACTERL with hydrocephalus may be the result of severe Fanconi anemia.
我们报告了一对双卵双胞胎，两人均患有脑室扩大、桡骨射线缺陷以及符合VACTERL综合征的多种畸形。分子研究表明，两人均为IVS4 + 4 A→T纯合子，这是范可尼贫血互补组C基因中的一种突变。这是首个分子证据，表明伴有脑积水的VACTERL综合征可能是严重范可尼贫血的结果。
