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并腿畸形合并罕见的骨融合及神经管缺陷。

Sirenomelia with an uncommon osseous fusion associated with a neural tube defect.

作者信息

Chen C, Shih S L, Jan S W, Lin Y N

机构信息

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan, ROC.

出版信息

Pediatr Radiol. 1998 May;28(5):293-6. doi: 10.1007/s002470050355.

Abstract

A sireniform infant presented with an uncommon osseous fusion of the lower limbs characterised by a fused femur, a partially fused tibia and sympus dipus with rudimentary digits and metatarsals. Associated abnormalities included sacral agenesis, a deformed pelvis, anorectal atresia, renal agenesis, cystic renal dysplasia, agenesis of the uterus and urinary bladder, ambiguous external genitalia, a single umbilical artery, a lumbosacral neural tube defect, and ventriculomegaly secondary to a Chiari II malformation. The pathogenesis of concurrent sirenomelia and neural tube defect is discussed.

摘要

一名呈美人鱼样的婴儿,其下肢出现罕见的骨性融合,特征为股骨融合、胫骨部分融合以及双下肢融合伴残留指(趾)和跖骨。相关异常包括骶骨发育不全、骨盆畸形、肛门直肠闭锁、肾缺如、多囊性肾发育不良、子宫和膀胱缺如、外生殖器模糊、单脐动脉、腰骶部神经管缺陷以及继发于Chiari II畸形的脑室扩大。本文讨论了并发性美人鱼综合征和神经管缺陷的发病机制。

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