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经胞浆内单精子注射受孕胎儿的下肢联体畸形:病例报告及发病机制综述

Sirenomelia of an intracytoplasmic sperm injection conceptus: a case report and review of mechanism.

作者信息

Bakhtar Omid, Benirschke Kurt, Masliah Eliezer

机构信息

UCSD Medical Center, Department of Pathology, San Diego, CA 92103, USA.

出版信息

Pediatr Dev Pathol. 2006 May-Jun;9(3):245-53. doi: 10.2350/08-05-0092.1.

Abstract

Postmortem dissection of the 18-week male conceptus, product of intracytoplasmic sperm injection (ICSI), demonstrated the hallmark findings of sirenomelia. The lower legs were fused and the left knee was rotated medially. Internal organs showed hypoplastic lungs, a multicystic kidney, and unilateral ureteral hypoplasia. The vitelline artery was absorbed, in a classic fashion, into the umbilical artery and communicated with the aorta at a point proximal to the iliac arteries. The tributaries distal to this point were hypoplastic. This finding is consistent with previously documented cases of sirenomelia and is thought to be the pathogenetic mechanism resulting in a vascular steal from the lower extremities. A rare finding was the presence of a penis on the dorsal side just below a perforate anus. In this case report, we discuss the pertinent clinical history and autopsy findings. A brief review of the mechanism thought to give rise to sirenomelia is provided. To our knowledge, this is the first reported case of sirenomelia in an ICSI conceptus.

摘要

对18周龄经卵胞浆内单精子注射(ICSI)受孕的男性胎儿进行尸检,发现了并腿畸形的典型特征。小腿融合,左膝向内旋转。内部器官显示肺发育不全、多囊肾和单侧输尿管发育不全。卵黄动脉以经典方式被吸收到脐动脉中,并在髂动脉近端的一点与主动脉相通。该点远端的分支发育不全。这一发现与先前记录的并腿畸形病例一致,被认为是导致下肢血管盗血的发病机制。一个罕见的发现是在穿孔肛门下方的背侧有阴茎。在本病例报告中,我们讨论了相关的临床病史和尸检结果。简要回顾了被认为导致并腿畸形的机制。据我们所知,这是首例报道的ICSI受孕胎儿发生并腿畸形的病例。

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