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一名女性新生儿患有梨状腹综合征,合并部分泄殖腔隔畸形序列,会阴开口缺失。

Prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence in a female newborn with absent perineal openings.

作者信息

Farooqui Azhar, AlAqeel Alaa, Habib Zakaria

机构信息

College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.

College of Medicine, King Saud University, P.O. Box 2454, Riyadh 11451, Saudi Arabia.

出版信息

Case Rep Surg. 2014;2014:746323. doi: 10.1155/2014/746323. Epub 2014 Dec 9.

DOI:10.1155/2014/746323
PMID:25548711
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4274712/
Abstract

Prune belly syndrome (PBS) is a rare congenital anomaly characterized in males by a triad of anomalous genitourinary tract, deficient development of abdominal wall muscles, and bilateral cryptorchidism. Although similar anomalies have been reported in females, by definition they do not full fill the classical triad. Urorectal septum malformation sequence (URSM) is a lethal condition characterized by presence of ambiguous genitalia, absent perineal openings (urogenital and anal), and lumbosacral abnormalities. In this original case report, the authors discuss the presentation and management of what would be analogous to a Woodhouse category 1 PBS in a female newborn associated with an overlapping presentation of URSM.

摘要

梅干腹综合征(PBS)是一种罕见的先天性异常,在男性中表现为泌尿生殖道异常、腹壁肌肉发育不全和双侧隐睾三联征。虽然女性中也有类似异常的报道,但根据定义,她们并不完全符合经典三联征。尿直肠隔畸形序列(URSM)是一种致命疾病,其特征为生殖器模糊、会阴开口(泌尿生殖和肛门)缺失以及腰骶部异常。在本病例报告中,作者讨论了一名女性新生儿中类似于伍德豪斯1类PBS并伴有URSM重叠表现的病例的临床表现及处理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96de/4274712/1a08972c6d0f/CRIS2014-746323.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96de/4274712/b0000d838475/CRIS2014-746323.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96de/4274712/1a08972c6d0f/CRIS2014-746323.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96de/4274712/b0000d838475/CRIS2014-746323.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96de/4274712/1a08972c6d0f/CRIS2014-746323.002.jpg

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An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence.一例尸检病例报告:梅干腹综合征合并部分尿直肠隔畸形序列重叠表现
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Prune belly syndrome with urethral hypoplasia and vesico-cutaneous fistula: A case report and review of literature.合并尿道发育不全及膀胱皮肤瘘的梅干腹综合征:一例报告并文献复习
Urol Ann. 2013 Oct;5(4):296-8. doi: 10.4103/0974-7796.120299.
2
Modified abdominoplasty for patients with the Prune Belly syndrome.改良式腹部整形术治疗梅干腹综合征患者。
Urology. 2014 Feb;83(2):451-4. doi: 10.1016/j.urology.2013.09.031. Epub 2013 Nov 12.
3
The prune belly syndrome in a female foetus with urorectal septum malformation sequence: a case report on a rare entity with an unusual association.
患有尿直肠隔畸形序列征的女性胎儿中的梅干腹综合征:一例罕见病症与异常关联的病例报告
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4
In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome.体内敲低 Brachyury 会导致骨骼缺陷和类似尾部退化综合征的尿直肠畸形。
Dev Biol. 2012 Dec 1;372(1):55-67. doi: 10.1016/j.ydbio.2012.09.003. Epub 2012 Sep 18.
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Genetic basis of prune belly syndrome: screening for HNF1β gene.Prune belly 综合征的遗传学基础:HNF1β 基因筛查。
J Urol. 2012 Jan;187(1):272-8. doi: 10.1016/j.juro.2011.09.036. Epub 2011 Nov 23.
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Contemporary epidemiology and characterization of newborn males with prune belly syndrome.当代流行病学及男性新生儿纽扣腹综合征的特征。
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Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome.肝细胞核因子-1-β缺失导致婴儿罹患梅干腹综合征。
Am J Perinatol. 2010 Aug;27(7):559-63. doi: 10.1055/s-0030-1248943. Epub 2010 Feb 19.
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Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome.一名患有梅干腹综合征患者的肝细胞核因子-1β基因全基因缺失。
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