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美人鱼综合征:罕见的遗传异常。

Mermaid syndrome: Rare genetic anomaly.

机构信息

Department of Nursing and Research, Aziz Fatima Nursing College, Faisalabad, Pakistan.

Department of Emergency Medicine, WAPDA Hospital, Faisalabad, Pakistan.

出版信息

J Pak Med Assoc. 2023 Apr;73(4):915-918. doi: 10.47391/JPMA.6073.

DOI:10.47391/JPMA.6073
PMID:37052015
Abstract

Mermaid syndrome (Sirenomelia) is a rare fatal congenital anomaly. The prevalence is reported to be 1 in 100,000 births. The baby appears to have a fish-like tail and joined legs featuring a mermaid at the time of birth or during antenatal screening. Most of these patients die shortly after birth, denoting rare survival rate. Gastrointestinal and genitourinary obstruction with single umbilical artery are the clinical symptoms. Two important hypotheses support the Sirenomelia disorder: the artery steal hypothesis, called the vitelline artery, and the blastogenesis defect hypothesis. There is no known reason for MS, but certain risk factors need to be identified, which include mother aged more than 40 years or less than 20 years at the time of giving birth, cousin marriage, exposure to teratogenic agents, and family history. A case of this rare congenital disorder was seen in Civil Hospital Faisalabad, Pakistan, which was referred from Duniyapur, District Lodhran, Pakistan. The neonate presented with fused lower limbs, congenital heart disease, and high-grade fever. The mother had a history of gestational diabetes mellitus and hypertension. The baby had fused legs, unidentified internal and external genital system, thumbs anomaly, bile in vomit, and despite life-saving efforts, the patient expired after five days of birth. There is lack of information regarding symptoms and a lack of prenatal screening for MS. Hence, there is a need to create awareness among health care professionals to identify the disease on screening for early diagnosis.

摘要

美人鱼综合征(并腿畸形)是一种罕见的致命先天性异常。据报道,其发病率为每 10 万例出生中有 1 例。婴儿在出生时或产前筛查时,外观可能有一条类似鱼的尾巴和连接在一起的腿,呈现出美人鱼的形态。这些患者大多在出生后不久就死亡,存活率极低。其临床表现为胃肠道和泌尿生殖系统梗阻,伴单脐动脉。并腿畸形有两个重要的假说:动脉窃取假说,即卵黄动脉,和胚层缺陷假说。目前尚不清楚美人鱼综合征的病因,但需要确定一些危险因素,包括母亲在分娩时年龄大于 40 岁或小于 20 岁、表亲结婚、接触致畸剂以及家族史。巴基斯坦费萨拉巴德市立医院曾接诊过一例这种罕见的先天性疾病,该病例是从巴基斯坦洛德拉区迪尤尼帕尔转诊而来的。患儿表现为下肢融合、先天性心脏病和高热。母亲有妊娠糖尿病和高血压病史。患儿下肢融合,内外生殖器系统未识别,拇指畸形,呕吐物中有胆汁,尽管进行了救生治疗,但患儿在出生后 5 天死亡。目前关于该疾病的症状和产前筛查缺乏信息。因此,需要提高卫生保健专业人员的认识,以便在筛查中识别该疾病,从而进行早期诊断。

相似文献

1
Mermaid syndrome: Rare genetic anomaly.美人鱼综合征:罕见的遗传异常。
J Pak Med Assoc. 2023 Apr;73(4):915-918. doi: 10.47391/JPMA.6073.
2
Mermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity.美人鱼综合征:一例足月新生儿罕见先天性畸形伴拇指畸形的病例报告。
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A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother.一种罕见的关联:糖尿病母亲所生婴儿出现并腿畸形合并肾上腺增大。
J Neonatal Perinatal Med. 2014 Jan 1;7(3):253-6. doi: 10.3233/NPM-1476813.
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Sirenomelia: A Case Report.美人鱼综合征:一例报告
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Sirenomelia or "Mermaid Syndrome" in a Twin Pregnancy: A Case Report.双胎妊娠中的并腿畸形或“美人鱼综合征”:一例报告
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A Case of Sirenomelia: A Mermaid Baby.一例并腿畸形:美人鱼宝宝
J Obstet Gynaecol India. 2019 Apr;69(Suppl 1):10-13. doi: 10.1007/s13224-018-1099-3. Epub 2018 Feb 17.
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Sirenomelia: two case reports.并肢畸形:两例报告。
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Sirenomelia: a case report.美人鱼综合征:一例病例报告。
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Mermaid syndrome: virtually no hope for survival.美人鱼综合征:几乎没有存活的希望。
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Sirenomelia (mermaid syndrome): a rare congenital disorder.并腿畸形(美人鱼综合征):一种罕见的先天性疾病。
BMJ Case Rep. 2019 Nov 24;12(11):e229970. doi: 10.1136/bcr-2019-229970.

引用本文的文献

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Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report.坦桑尼亚新生儿美人鱼综合征合并唇裂 1 例报告。
J Med Case Rep. 2024 May 6;18(1):224. doi: 10.1186/s13256-024-04549-5.