同胞中的膀胱外翻和尿道上裂复合体：病例报告及文献复习

Bladder exstrophy and epispadias complex in sibling: case report and review of literature.

作者信息

Kajbafzadeh Abdol-Mohammad, Tajik Parvin, Payabvash Seyedmehdi, Farzan Shima, Solhpour Amir Reza

机构信息

Department of Urology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Pediatr Surg Int. 2006 Sep;22(9):767-70. doi: 10.1007/s00383-006-1741-5. Epub 2006 Aug 1.

DOI:10.1007/s00383-006-1741-5

PMID:16896811

Abstract

The bladder exstrophy and classic epispadias represent a spectrum of congenital anomalies with different degrees of anterior midline defect. Although the anomaly usually occurs sporadically there are some cases indicative of a strong genetic component. We present the clinical data of two siblings with bladder exstrophy and epispadias complex (BEEC), who were the product of consanguineous union. All previous reports of familial BEEC in the literature have been reviewed.

摘要

膀胱外翻和典型尿道上裂代表了一系列具有不同程度前中线缺损的先天性异常。虽然这种异常通常是散发性发生的，但也有一些病例表明存在强大的遗传因素。我们报告了一对患有膀胱外翻和尿道上裂复合体（BEEC）的同胞兄妹的临床数据，他们是近亲结婚的产物。我们还回顾了文献中所有关于家族性BEEC的既往报道。