Sirenomelia, which was diagnosed in early pregnancy: case report. Perinatal Journal 2014;22(3):SE45-46
- Başkent Üniversitesi Tıp Fakültesi, Kadın Hastalıkları ve Doğum Anabilim Dalı- Adana TR
- Başkent Üniversitesi Tıp Fakültesi, Patoloji Anabilim Dalı- Adana TR
Hakan Kalaycı, Başkent Üniversitesi Tıp Fakültesi, Kadın Hastalıkları ve Doğum Anabilim Dalı- Adana TR,
Conflicts of Interest
No conflicts declared.
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.
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.
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.
Sirenomelia, first trimester, ultrasound
Sirenomelia, 2 femurs and one tibia
Sirenomelia, after termination fetus
Sirenomelia, X-ray view