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一名患有VACTERL综合征的新生儿的尿直肠隔畸形序列征

Urorectal septum malformation sequence in a newborn with VACTERL association.

作者信息

Patra Soumya, Purkait Radheshyam

机构信息

Department of Paediatric Medicine, NRS Medical College and Hospital, Kolkata, India.

出版信息

J Coll Physicians Surg Pak. 2012 Feb;22(2):116-7.

Abstract

Urorectal septum malformation sequence (URSMS) is an extremely rare anomaly, consists of multiple system anomalies including ambiguous genitalia, absence of a perineal opening, an imperforate anus, and urological, colonic and lumbosacral defects. We describe a newborn with characteristic URSMS who also had features of congenital varus deformity of leg, polydactyly, tracheo-oesophageal fistula, cardiac defect, anal atresia and hydronephrosis in antenatal ultrasound characteristic of VACTERL association.

摘要

尿直肠隔畸形序列征(URSMS)是一种极其罕见的异常情况,由多种系统异常组成,包括生殖器模糊、会阴开口缺失、肛门闭锁以及泌尿系统、结肠和腰骶部缺陷。我们描述了一名具有典型URSMS的新生儿,其在产前超声检查中还具有先天性小腿内翻畸形、多指畸形、气管食管瘘、心脏缺陷、肛门闭锁和肾积水等特征,这些特征符合VACTERL综合征。

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