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梅干腹综合征:病例系列及关于早期产前诊断、流行病学、遗传因素、治疗和预后的文献综述

Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis.

作者信息

Tonni Gabriele, Ida Vito, Alessandro Ventura, Bonasoni Maria Paola

机构信息

Department of Obstetrics & Gynceology, Guastalla General Hospital, AUSL Reggio Emilia, Italy.

出版信息

Fetal Pediatr Pathol. 2013 Feb;31(1):13-24. doi: 10.3109/15513815.2012.659411. Epub 2012 Apr 16.

Abstract

Prune-belly syndrome (PBS) is a rare congenital syndrome characterized by deficient abdominal muscles, urinary tract malformation, and in males, cryptorchidism and has an estimated incidence of 1 in 35,000 to 1 in 50,000 live births. The syndrome might be due to severe bladder outlet obstruction or to abdominal muscle deficiency secondary to a migrational defect of the lateral mesoblast between weeks 6 and 7 of pregnancy. The current review of the medical record reports a special focus on epidemiology, genetic factors, early prenatal diagnosis clusters, treatment, and prognosis of PBS.

摘要

梅干腹综合征(PBS)是一种罕见的先天性综合征,其特征为腹肌发育不全、泌尿系统畸形,男性患者还伴有隐睾症,估计发病率为每35000至50000例活产中有1例。该综合征可能是由于严重的膀胱出口梗阻,或因妊娠第6至7周侧中胚层迁移缺陷继发的腹肌缺乏所致。本次病历综述特别关注梅干腹综合征的流行病学、遗传因素、早期产前诊断聚类、治疗及预后。

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