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一例产前诊断的并指(趾)畸形、残留尾的美人鱼综合征病例。

A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail.

作者信息

Guven M A, Uzel M, Ceylaner S, Coskun A, Ceylaner G, Gungoren A

机构信息

Department of Obstetrics and Gynecology, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.

出版信息

Genet Couns. 2008;19(4):419-24.

Abstract

We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital. Prenatal ultrasound demonstrated fusion of the lower limbs in one member and normal femurs, tibias and fibulas, and normal vertebras in the second twin, suggesting the diagnosis of sirenomelia. The twins were delivered vaginally at 35 weeks after spontaneous onset of labor. The affected newborn died after 24 hours and postnatal examination revealed unseparated lower limbs with extreme retroversion, bilateral pes equinus, unilateral postaxial polydactyly, a vestigial tail on the sacral region, a large and wide penis and anal atresia. There is only one previous report of sirenomelia with vestigial tail in the literature. However, a large, wide penis and polydactyly have not been reported before in association with this anomaly.

摘要

我们报告一例产前诊断为并腿畸形、残留尾及多指畸形的病例。一名30岁妊娠16周的双绒毛膜双胎孕妇入院。产前超声显示其中一个胎儿下肢融合,股骨、胫骨和腓骨正常,另一个胎儿椎骨正常,提示并腿畸形诊断。双胎在自然发动分娩后35周经阴道分娩。患病新生儿在24小时后死亡,产后检查发现下肢未分离,极度后翻,双侧马蹄足,单侧轴后多指畸形,骶部有一残留尾,阴茎大且宽,肛门闭锁。文献中此前仅有一例并腿畸形合并残留尾的报告。然而,此前尚未有阴茎大且宽及多指畸形与该异常相关的报道。

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