尿直肠隔畸形报道并文献复习

Urorectal septum malformation:analysis of two cases and a literature review

尿直肠隔畸形(urorectal septum malformation,URSM)是指由于尿直肠隔移行、融合异常以及泄殖腔膜发育异常导致的一系列畸形,包括尿直肠隔发育异常和(或)泌尿生殖器异常,具有特征性产前超声表现。但因对URSM畸形组合类型认识不够,产前超声常把不同系统异常分别提示诊断,而非将其综合考虑为尿直肠隔畸形。本研究对近期我院产前超声诊断的两例女性URSM胎儿超声表现及引产后解剖结构特点进行回顾性分析,并结合以往文献报道,总结URSM的畸形特征及形成机制、与染色体相关性、再发风险、患儿预后等相关研究成果,旨在加强对URSM的认识,提高产前诊断率。

Urorectal Septum Malformation （URSM） is a series of deformities which result from the migration/fusion disorder of the urorectal septum and the maldevelopment of the cloacal membrane, including developmental anomalies of the urorectal septum and urogenital organs. Although having characteristic ultrasonic markers, URSM is often misdiagnosed as multisystematic deformity rather than considered as a complex syndrom because of lacking recognition for its composition. By analyzing the prenatal ultrasonographic features and postnatal autopsy findings of the two cases of female URSM fetuses retrospectively which were diagnosed in our hospital and reviewing the related literatures, this study tried to summarize the research findings of the URSM on abnormal features, formation mechanism, the risk of recurrence and the prognosis of the affected infants, and it may improve the orenatal diagnosis bv making URSM knowm generally.