美人鱼症或“美人鱼综合症”:在印度尼西亚和亚洲极为罕见的病例

IF 0.2 Q4 PEDIATRICS Paediatrica Indonesiana Pub Date : 2023-03-06 DOI:10.14238/pi63.1.2023.45-50
Q. Santosa, Setya Dian Kartika, Irwan Nuryadin, Alfi Muntafiah
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引用次数: 0

摘要

Sirenomelia,也被称为美人鱼综合征,是一种非常罕见的致命先天性多系统畸形疾病,其特征是下肢融合。我们在此报告一例早产儿下肢融合。该婴儿在妊娠35周零3天时由一位27岁的初产妇剖宫产。母亲无高血压、心脏病、哮喘或糖尿病史。出生时,婴儿不哭,音弱,心率(HR) <60次/分钟(BPM),阿普加评分为1/2,出生体重为2300克。婴儿肛门不穿孔,无泌尿生殖器开口或外生殖器。有一个小的阴茎状突起,没有孔,如在不明生殖器的情况下。两条下肢融合在一起,每只脚上有五个脚趾。尽管进行了新生儿复苏,婴儿在出生后75分钟内死亡。这个孩子被诊断为肺炎。本病例报告旨在强调早期产前诊断和患者家属教育的重要性。
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Sirenomelia or “mermaid syndrome”: an extremely rare case in Indonesiasia
Sirenomelia, also known as mermaid syndrome, is a very rare lethal congenital disorder with multisystem malformations, characterized by fusion of the lower limbs. Here we report a preterm neonate with fusion of the lower limbs. The baby was born by cesarean section to a 27-year-old primigravida mother at 35 weeks and 3 days’ gestation. There was no maternal history of hypertension, heart disease, asthma, or diabetes mellitus. At birth, the infant did not cry, had weak tone, a heart rate (HR) of <60 beats per minute (BPM), an Apgar score of 1/2, and a birth weight of 2,300 grams. The infant had an imperforate anus and no urogenital openings or external genitalia. There was a small penis-like protrusion without an aperture, such as in cases of ambiguous genitalia. The two lower limbs were fused, with five toes on each foot. Despite neonatal resuscitation, the infant died within 75 minutes of birth. The child was diagnosed with sirenomelia. This case report aims to emphasize the importance of early prenatal diagnosis and education of the patient’s family.
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CiteScore
0.40
自引率
0.00%
发文量
58
审稿时长
24 weeks
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