Sirenomelia, which was diagnosed in early pregnancy: case report

Objective

Sirenomelia is rare syndrome, which included fusion of the lower extremities, musculoskeletal abnormalities, urogenital and gastrointestinal abnormalities. It develops as result of serious defects in the development of the posterior caudal blastema. It was seen at 1/60000-1/100000 births. Usually it is mortal and was seen more often at twin pregnancy and female fetuses. In the literature, alobar holoprosencephaly, lumbar myelomeningocele has been reported in association with sirenomelia. In this text, we report a pregnant with sironemilia, which was examined in our clinics.

Case(s)

33 years old, 13 weeks of pregnancy. At sonography, CRL was 52 mm (12 weeks 5 days) and nuchal translucency 1,95 mm. Bilateral lower extremities were seen adherent. Fetus had two femurs and continued with one tibial bone. Bilateral kidney and bladder was not seen and we observed one umblical arter. Mortality of this disease was descibed to patient. Termination decision was made at the request of the family. After termination, X-Ray was taken and it supported sonographic findings. In autopsy, fusion of the lower extremities, low-set ears, imperforate anus, absence of internal and external genital organs, dysmorphic kidney tissue, gastroschisis, left foot oligodactyly was observed.

Conclusion

Sirenomelia is a serious clinical entity that is incompatible with life mostly due to severe renal anomalies. Because of mortality, decision-making termination is very important for parents.

Keywords

Sirenomelia, first trimester, ultrasound

	File/Dsecription
	Figure 1 Sirenomelia, 2 femurs and one tibia
	Figure 2 Sirenomelia, after termination fetus
	Figure 3 Sirenomelia, X-ray view