Complete urorectal septal malformation with left hemimelia in a neonate: an uncommon association.
作者信息
Ramya Gurujala Mahadeva, Abiramalatha Thangaraj, Balakrishnan Umamaheswari, Chinnathambi Narayanan Saishalini
机构信息
Neonatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
Neonatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
出版信息
BMJ Case Rep. 2021 Mar 25;14(3):e241423. doi: 10.1136/bcr-2020-241423.
Abstract
摘要
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Complete urorectal septal malformation with left hemimelia in a neonate: an uncommon association.新生儿全尿道直肠隔畸形合并左半侧肢体发育不全：一种罕见的关联。
BMJ Case Rep. 2021 Mar 25;14(3):e241423. doi: 10.1136/bcr-2020-241423.
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Survival in a neonate with complete urorectal septum malformation sequence after fetal vesico-amniotic shunting for a prominently dilated cloaca.一名患有完全性泄殖腔隔畸形序列征的新生儿，在胎儿期因泄殖腔显著扩张接受膀胱羊膜分流术后的存活情况。
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Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities.包括短肢畸形、血小板减少、脑膨出和泌尿生殖系统异常在内的多发性先天性畸形综合征。
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[Sireno-sympodia. Case report].[无四肢联体。病例报告]
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Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature.尿直肠隔畸形序列征是脊柱裂、肛门闭锁、气管食管瘘、肾脏畸形和桡骨发育不良综合征的一种变异型吗？1例病例报告及文献复习。
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Pathologic quiz case: multiple congenital birth defects in a full-term infant. Urorectal septum malformation sequence.病理病例：一名足月婴儿的多种先天性出生缺陷。尿直肠隔畸形序列征。
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A tortuous proximal urethra in urorectal septum malformation sequence?
Am J Med Genet A. 2014 May;164A(5):1298-303. doi: 10.1002/ajmg.a.36451. Epub 2014 Mar 24.
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Spectrum of urorectal septum malformation sequence.尿直肠隔畸形序列征的范围
Congenit Anom (Kyoto). 2016 May;56(3):119-26. doi: 10.1111/cga.12149.
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Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: time to explore the genetics.兄妹中发生尿直肠隔畸形序列谱异常的复发：是时候探索遗传学了。
Am J Med Genet A. 2013 Jul;161A(7):1718-21. doi: 10.1002/ajmg.a.35950. Epub 2013 May 17.
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Urorectal septum malformation sequence: a report of seven cases.
Congenit Anom (Kyoto). 2008 Dec;48(4):174-9. doi: 10.1111/j.1741-4520.2008.00200.x.
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Partial urorectal septum malformation sequence: a report of 25 cases.部分泌尿直肠隔畸形序列征：25例报告
Am J Med Genet. 2001 Oct 1;103(2):99-105. doi: 10.1002/ajmg.1510.
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Urorectal septum malformation sequence. Report of six cases and embryological analysis.尿直肠隔畸形序列征。6例报告及胚胎学分析。
Am J Dis Child. 1987 Sep;141(9):1021-4. doi: 10.1001/archpedi.1987.04460090098038.
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