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Sirenomelia综合征

Sirenomelia syndrome
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摘要 Sirenomelia美人鱼综合征又称人鱼序列综合征,是一种临床罕见的先天畸形,其发病率极低,病因不甚明确,可能是遗传和环境共同作用结果。典型的特征是下肢不同程度的融合,合并泌尿生殖系统和胃肠道异常,临床表观为多发畸形不同组合。超声是其主要诊断手段,亦可产后外观辨识明确。该病为致死性疾病,妊娠结局不良。应提高对其认知度,重视定期产前检查,加强产前超声排畸检查,一经确诊,尽快终止妊娠。 Sirenomelia syndrome known as Mermaid syndrome is also called Sirenomelia sequence syndrome.It is a rare congenital deformity in clinical with an extremely low incidence.The mechanism is not very clear,may be the results of inherit and environment teratogenic factors interaction.The typical characteristics is partly or completely fusion of low limbs,companied by urogenital system and gastrointestinal tract abnormal,so it presented multiple malformation with different combinations.Ultrasonic sound is thought as the main diagnosis means,or it can be identified by the appearance after delivery.As this disease is lethal,hence the pregnant result will not very optimistic.We should improve awareness,pay more attention to regular antenatal examination,enhance Orthodontic Ultrasound examination,once diagnosed,terminate pregnancy as soon as possible.
作者 张丽丽 Zhang Lili(North District of Nanjing Medical University Affiliated Suzhou Hospital(Suzhou municipal hospital),Suzhou,Jiangsu 215000,China)
出处 《首都食品与医药》 2023年第12期30-32,共3页 Capital Food Medicine
关键词 人鱼综合征 人鱼序列综合征 尾部退化综合征 Sirenomelia Syndrome Sirenomelia Sequence Syndrome Tail degeneration Syndrome
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