Division of Evolution and Genomic Sciences, Faculty of Biology, School of Biological Sciences, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
Genes (Basel). 2021 Jul 28;12(8):1149. doi: 10.3390/genes12081149.
The bladder exstrophy-epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current knowledge on this multifactorial disorder, including phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components.
膀胱外翻-尿道上裂复合畸形（BEEC）是一种腹部中线畸形，包括腹壁、骨盆、泌尿道、生殖器、肛门和脊柱的一系列先天性泌尿生殖系统异常。绝大多数 BEEC 病例被归类为非综合征型，其畸形的病因仍不清楚。本综述介绍了这种多因素疾病的最新知识，包括表型和解剖学特征、流行病学、提出的发育机制、现有的动物模型以及潜在的遗传和环境因素。
