Department of Internal Medicine, School of Medicine & Dentistry, University of Dodoma, Dodoma, Tanzania.
Department of Biochemistry & Clinical Pharmacology, Mbeya College of Health & Allied Sciences, University of Dar es Salaam, Mbeya, Tanzania.
J Med Case Rep. 2024 May 6;18(1):224. doi: 10.1186/s13256-024-04549-5.
Sirenomelia or sirenomelia sequence, also known as mermaid syndrome, is a rare congenital anomaly involving the caudal region of the body. The syndrome is characterized by partial or complete fusion of lower extremities, renal agenesis, absent urinary tract, ambiguous external genitalia, imperforate anus, and single umbilical artery. Sirenomelia is often associated with several visceral congenital malformations, rendering it invariably incompatible with extrauterine life.
We present the case of 22-year-old Black African woman who delivered a term newborn by caesarean section at a gestation age of 37 weeks due to obstructed labor with fetal distress. The newborn was a fresh stillbirth weighing 2100 g and had fusion of the lower extremities, a single upper limb, ambiguous genitalia, imperforate anus, and a cleft lip. The mother had made only two prenatal visits, at which she was found to be normotensive and normoglycemic. She was not screened for routine fetomaternal infections and missed supplementation for folic acid during the critical first trimester. She did not undergo any obstetric ultrasonography. The parents of the newborn were not close relatives and there was no family history of consanguinity. Further genetic testing was not performed due to lack of laboratory capacity, and post mortem examination was not permitted due to cultural taboo and restrictions relating to handling of deceased newborns.
Sirenomelia is a rare congenital malformation with very poor prognosis. Specific interventions during pre-conception and early prenatal care are critical in the prevention of specific congenital anomalies. Early obstetric ultrasonography is invaluable for diagnosis of sirenomelia as well as counseling for possible termination of pregnancy.
美人鱼综合征又称并腿畸形或并腿序列，是一种罕见的先天性畸形，涉及身体的尾部区域。该综合征的特征为下肢部分或完全融合、肾发育不全、尿路缺失、外生殖器模糊、肛门闭锁和单脐动脉。美人鱼综合征常伴有多种内脏先天性畸形，因此胎儿无法在子宫外存活。
我们介绍了一位 22 岁的黑人非洲妇女的病例，她因胎儿窘迫导致梗阻性分娩，在 37 孕周时通过剖宫产分娩了一名足月新生儿。新生儿为新鲜死产，体重 2100 克，下肢融合，单上肢，外生殖器模糊，肛门闭锁和唇裂。该母亲仅进行了两次产前检查，检查时发现她血压和血糖正常。她没有进行常规的胎儿-母体感染筛查，也错过了在关键的孕早期补充叶酸。她没有进行任何产科超声检查。新生儿的父母不是近亲，家族中也没有近亲结婚的病史。由于缺乏实验室能力，没有进行进一步的基因检测，由于文化禁忌和处理已故新生儿的限制，也没有进行尸检。
美人鱼综合征是一种罕见的先天性畸形，预后非常差。在受孕前和早期产前护理期间进行具体干预对于预防特定的先天性畸形至关重要。早期产科超声检查对于诊断美人鱼综合征以及为可能的终止妊娠提供咨询具有重要价值。
