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- W2012055504 abstract "Anencephaly and sirenomelia are well-defined congenital malformations that usually occur independently. The combination of sirenomelia and craniorachishisis totalis is extremely rare. The prenatal diagnosis is difficult mainly due to oligohydramnios that is almost invariably present. We report a case of combined sirenomelia, anencephaly and complete rachishisis diagnosed in a 16-week fetus. To our knowledge this is the 7th case reported in the literature and the first to be diagnosed so early in the pregnancy. A 20 year old woman with unremarkable past medical and family history, was first seen at 16 weeks in her first pregnancy. The ultrasound examination revealed a live growth-restricted fetus and severe oligohydramnios. She was then referred to our department for further investigation of the pregnancy. Ultrasonography demonstrated anencephaly and spina bifida. Additionally only one femoral bone was identified during the examination. Severe oligohydramnios restricted the assessment of the fetal anatomy. Pregnancy termination was decided due to anencephaly. External examination of the fetus after the termination showed anencephaly with complete rachischisis, absence of external genitalia, imperforate anus and only one lower extremity. Autopsy of the fetus revealed absence of the rectum, both kidneys and ureters, bladder and urethra. The diagnosis of anencephaly and apus symelia was made with pathological and radiological examination of the fetus. The presented case combines cephalic and caudal defects of the fetus and could be considered an example of the ‘axial mesodermal dysplasia spectrum’. Ultrasonographic diagnosis of anencephaly is easy but the combination of anencephaly and oligohydramnios should set suspicion for more complex anomalies. Prenatal diagnosis of sirenomelia is difficult due to the presence of renal agenesis and severe oligohydramnios. The diagnosis of the condition can be confirmed with radiological examination after termination of pregnancy." @default.
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- W2012055504 date "2010-10-01" @default.
- W2012055504 modified "2023-09-27" @default.
- W2012055504 title "P05.12: A case of sirenomelia and anencephaly in a 16 week fetus" @default.
- W2012055504 doi "https://doi.org/10.1002/uog.8374" @default.
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