产前超声诊断双胎之一尿直肠隔畸形序列征1例
Prenatal sonographic diagnosis of urorectal septum malformation sequence in one of twins: a case report
摘要尿直肠隔畸形序列征(urorectal septum malformation sequence,URSMS)是一种罕见的先天性的复杂畸形,通常包括严重的泌尿系统、生殖系统以及消化系统畸形。URSMS超声表现复杂多变,产前超声诊断比较困难。本文报告了1例双胎之一合并部分型URSMS。患儿女性,产前超声表现为盆腔“三叶状”囊性包块、骶尾部半椎体畸形、肛门闭锁及一过性腹腔积液等,出生后未见肛门,且结肠、尿道及阴道汇入共同通道后开口于会阴部,考虑URSMS,拟行手术治疗,家属放弃治疗后新生儿死亡。
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abstractsUrorectal septum malformation sequence (URSMS) is a rare congenital complex malformation characterized by severe abnormalities in the urinary, reproductive and digestive systems. It is difficult to diagnose URSMS by prenatal ultrasound due to its complex and variable manifestations. This paper reported a twin with partial URSMS. Prenatal ultrasound findings included pelvic "trilobe" cystic masses, sacrococcygeal hemivertebral malformations, imperforate anus, and transient ascites. Postnatal examination confirmed the diagnosis of URSMS, as the baby girl was born with anal atresia. Her colon, urethra, and vagina converged and formed a common tract with a single perineal opening. The baby died after her parents' refusal to surgical treatment.
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