Embryological and Pathophysiological Perspectives on a Rare Association of Sirenomelia with Anencephaly and Spina Bifida.
Vishwajit R Deshmukh, Bharat Ramrao Sontakke, K Ariyanachi et al.
✦ AI-curated · Sources linked
Case in brief
A reported fetus had sirenomelia, with a single lower limb, together with anencephaly and spina bifida. Fetal dissection identified a single kidney and ureter, as well as an inflated, blind-ending sigmoid colon. Histological examination of the umbilical cord showed one umbilical artery and one vein. The report emphasizes early detection of these abnormalities by ultrasonography to help reduce parental emotional distress.
What made this case unusual
The case combined sirenomelia with both anencephaly and spina bifida, alongside genitourinary and gastrointestinal abnormalities and a single umbilical artery and vein.
Diagnostic / clinical pearl
Sirenomelia may coexist with major neural tube defects and abnormalities of multiple organ systems; assessment should include careful ultrasonographic evaluation.