Introduction: Sirenomelia, also known as mermaid syndrome, is a very rare fatal congenital abnormality in which the legs are fused together, giving them the appearance of a mermaid's tail. It is commonly associated with abnormal kidney development, genital and rectal abnormalities. Only a handful of cases have been reported in other parts of the world and is very rare in India too. This case was diagnosed postnatal in a tertiary hospital in Nagpur city of central India.
Case Presentation: A preterm male baby of weight 1.1 kg was delivered by lower-segment caesarean section to a primigravida of age 26 years. Baby presented with fusion of the entire lower limbs, imperforate anus, indiscernible genital structures, single umbilical artery and a neural tube defect. He cried spontaneously with APGAR scores 5 at 0 and 8 at 5 min and expired after 4 h. His mother had a family history of diabetes in her paternal side. The post-mortem chromosomal studies depicted 47XXY, i.e., Klinefelter's syndrome.
Conclusions: Sirenomelia is a rare occurrence and this case gives us valuable information about the clinical presentation of it at birth and subsequent post-mortem chromosomal findings could indicate a possible genetic association.
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http://dx.doi.org/10.1007/s13224-018-1099-3 | DOI Listing |
Cureus
October 2024
Internal Medicine, West China School of Medicine, Sichuan University, Chengdu, CHN.
Sirenomelia, or mermaid syndrome, is a rare congenital disorder characterized by the fusion of lower limbs and often associated with multisystem organ dysfunction, resulting in poor survival beyond the neonatal period. We report a case of sirenomelia in a full-term infant born to a 28-year-old primigravida with no significant medical history, gestational diabetes, or teratogenic exposure. The antenatal period was complicated by oligohydramnios, though routine ultrasounds failed to detect the condition.
View Article and Find Full Text PDFJ Med Case Rep
May 2024
Department of Internal Medicine, School of Medicine & Dentistry, University of Dodoma, Dodoma, Tanzania.
Background: 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.
View Article and Find Full Text PDFJ Coll Physicians Surg Pak
March 2024
Department of Diagnostic Radiology, Jinnah Sindh Medical University, National Institute of Child Health, Karachi, Pakistan.
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View Article and Find Full Text PDFInt J Surg Case Rep
January 2024
Department of gynecology and obstetrics, University hospital center Ibn Rochd, Faculty of Medecine and Pharmacy, Hassan II University, Casablanca, Morocco.
Unlabelled: Sirenomelia is a very rare congenital anomaly and is the most severe form of fetal caudal agenesis, characterised by partial or total fusion of the lower limbs, generally associated with severe abnormalities of the urinary and digestive systems, including disappearance of the kidneys, which can be fatal. Our aim was to diagnose this malformation as early as possible in pregnancy, in order to distinguish it from caudal regression syndrome, and to monitor the obstetric complications associated with this pathology. Given that the patient decided to carry the pregnancy to term, we succeeded in monitoring the complications of this malformative pathology.
View Article and Find Full Text PDFJ Obstet Gynaecol India
December 2023
Department of Obstetrics and Gynaecology, Seth G S Medical College and KEM Hospital, Mumbai, India.
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