Sirenomelia





KEY FACTS


Terminology





  • Synonym: Mermaid syndrome



  • Definition: Lower extremity fusion + other skeletal, gastrointestinal, and genitourinary abnormalities



Imaging





  • Fused lower extremities (variable amount of fusion)




    • Severe fusion may present as single lower extremity




  • Severe renal anomalies commonly seen




    • Bilateral renal agenesis most common



    • Bilateral renal cystic dysplastic



    • Secondary anhydramnios is common




  • Absence of normally tapered lumbosacral spine



  • Single umbilical artery (SUA) goes directly to aorta




    • SUA is persistent vitelline artery → hypoperfusion of lower extremities, kidneys, abdominal organs




  • Color Doppler findings in fetal abdomen




    • Absent renal arteries and aortic bifurcation (into iliacs)




Top Differential Diagnoses





  • Caudal regression/dysgenesis syndrome



  • VACTERL association



  • Arthrogryposis with fixed lower limb posture



Clinical Issues





  • Majority of cases lethal due to pulmonary hypoplasia



  • ≥ 50% of diagnoses missed in utero because of poor visualization from anhydramnios



  • Rare survivors with severe genitourinary and gastrointestinal anomalies



Scanning Tips





  • Look for all expected bones of lower extremity in cases with no/low fluid



  • Use color Doppler to show presence or absence of renal arteries when anhydramnios is present



  • Follow SUA to its attachment in fetus




    • Normal umbilical artery attaches to iliac artery, not aorta








Fused lower extremities are seen in a 13-week fetus with syrenomelia. There are 2 femurs and 2 midleg bones (should be 4). The feet are fused as well. Diagnosis of syrenomelia can be made at the time of the nuchal translucency scan. Later, there is usually no fluid, and anatomy may be more difficult to see.








Color Doppler ultrasound in the same fetus shows a single umbilical artery that is midline and inserts directly into the aorta . The umbilical artery is normally lateral to the bladder and inserts on the iliac artery.

Nov 10, 2024 | Posted by in ULTRASONOGRAPHY | Comments Off on Sirenomelia

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