Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently.
We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation.
To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy.
The final diagnosis is confirmed with radiological examination after the termination of pregnancy.
Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios.
The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field.
1st Department of Obstetrics & Gynecology, National & Kapodistrian University of Athens, Alexandra Hospital, Athens, Greece.
Correspondence: Charalampos Theofanakis, Agiou Pavlou 23, Peristeri, Athens, Greece (e-mail: firstname.lastname@example.org).
Abbreviations: IUGR = intrauterine growth restriction, NTD = neural tube defects.
Institutional Review Board Approval: Institutional review board approval was not mandatory for this case report.
The authors have no conflict of interest to disclose.
This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0
Received December 19, 2016
Received in revised form November 9, 2017
Accepted November 10, 2017