Evans J A, Stranc L C, Kaplan P, Hunter A G
Department of Human Genetics, University of Manitoba, Winnipeg, Canada.
Am J Med Genet. 1989 Oct;34(2):177-82. doi: 10.1002/ajmg.1320340209.
Central nervous system defects including hydrocephalus are rare in cases of VACTERL association. However, recent reports suggest that there may be one or more disorders in which this combination of anomalies occurs. We report 8 additional patients including a recurrence in a previously described family, review the literature, and provide some population-based data of VACTERL-type anomalies in hydrocephalus cases. VACTERL with hydrocephalus appears distinct from hydrolethalus and similar conditions but is itself heterogeneous. The pattern of inheritance of the disorders involved is unclear, but autosomal recessive and sex-linked forms likely occur. The prognosis of VACTERL cases with hydrocephalus appears much poorer than for those with classic VACTERL anomalies, and the recurrence risk may be higher than for either the VACTERL association or isolated hydrocephalus.
在VACTERL综合征病例中，包括脑积水在内的中枢神经系统缺陷较为罕见。然而，最近的报告表明，可能存在一种或多种出现这种异常组合的疾病。我们报告了另外8例患者，其中包括一个先前报道过的家族中的复发病例，回顾了相关文献，并提供了一些脑积水病例中VACTERL型异常的基于人群的数据。伴有脑积水的VACTERL综合征似乎与致死性脑积水及类似病症不同，但本身具有异质性。所涉及疾病的遗传模式尚不清楚，但可能存在常染色体隐性遗传和性连锁形式。伴有脑积水的VACTERL综合征病例的预后似乎比经典VACTERL异常病例差得多，复发风险可能高于VACTERL综合征或孤立性脑积水。
