膀胱外翻的家系研究。
A family study of bladder exstrophy.
作者信息
Ives E, Coffey R, Carter C O
出版信息
J Med Genet. 1980 Apr;17(2):139-41. doi: 10.1136/jmg.17.2.139.
Abstract
The families of 102 index patients with bladder exstrophy treated at The Hospital for Sick Children, Great Ormond Street were studied in an attempt to arrive at an empirical risk of recurrence for sibs. Of the 102 patients, 89 had complete exstrophy, eight had partial exstrophy (variant), and five had exstrophy of the cloaca. In all they had 162 sibs, none of whom had bladder exstrophy. The risk to sibs, in this study and from reports by surgeons of sib pairs in their consecutive series, is low and probably less than 1%. There is a suggestion of an increase in central nervous system malformation in sibs as well as in the index patients.
摘要
对在大奥蒙德街儿童医院接受治疗的102例膀胱外翻指数患者的家庭进行了研究，以得出同胞复发的经验性风险。在这102例患者中，89例为完全性外翻，8例为部分性外翻（变异型），5例为泄殖腔外翻。他们共有162名同胞，其中无一例患有膀胱外翻。在本研究以及外科医生关于其连续系列中的同胞对的报告中，同胞的患病风险较低，可能低于1%。有迹象表明，同胞以及指数患者的中枢神经系统畸形有所增加。
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