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173例髓母细胞瘤中的先天性异常和遗传综合征

Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma.

作者信息

Evans G, Burnell L, Campbell R, Gattamaneni H R, Birch J

机构信息

Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, England.

出版信息

Med Pediatr Oncol. 1993;21(6):433-4. doi: 10.1002/mpo.2950210608.

Abstract

One hundred seventy-three consecutive cases of medulloblastoma recorded in the Manchester Children's Tumour Registry from 1954 to 1989 were studied. After review of case notes, X-rays, and health surveys the clinical outcome and incidence of congenital anomaly was determined. A previously unreported association with Rubinstein Taybi syndrome was found. Evidence of a genetic syndrome or congenital anomaly was found in 6.4%. These figures provide further evidence of the higher-than-expected incidence of congenital abnormalities.

摘要

对1954年至1989年曼彻斯特儿童肿瘤登记处记录的173例连续性髓母细胞瘤病例进行了研究。在查阅病例记录、X光片和健康调查后,确定了临床结果和先天性异常的发生率。发现了一种此前未报告的与鲁宾斯坦-泰比综合征的关联。在6.4%的病例中发现了遗传综合征或先天性异常的证据。这些数据进一步证明了先天性异常的发生率高于预期。

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