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      Sirenomelia: A Rare Case of Foetal Congenital Anomaly

      case-report

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          Abstract

          Sirenomelia, alternatively known as ‘mermaid syndrome’ is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid’. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the findings, relative to the present literature and related etiopathogenesis.

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          Sirenomelia. A morphological study of 33 cases and review of the literature.

          Claire J. Stocker, S A Heifetz (1986)
          Article 0 comments Cited 31 times – based on 0 reviews     Review now
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            A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

            Carlos Garrido-Allepuz, Endika Haro, Domingo González-Lamuño … (2011)
            Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced bone morphogenetic protein (Bmp) signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.
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              Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.

              Ashraf M. Morgan, Iêda M Orioli, Emanuele Leoncini … (2011)
              Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500 g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10-15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies. Copyright © 2011 Wiley Periodicals, Inc.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Clin Neonatol
                Journal ID (iso-abbrev): J Clin Neonatol
                Journal ID (publisher-id): JCN
                Title: Journal of Clinical Neonatology
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 2249-4847
                ISSN (Electronic): 1658-6093
                Publication date (Print): Oct-Dec 2012
                Volume: 1
                Issue: 4
                Pages: 221-223
                Affiliations
                [1] Department of Radio-Diagnosis and Modern Imaging, Medical College, Kota, Rajasthan, India
                Author notes
                Address for correspondence: Dr. Meena Dharmraj, Department of Radiodiagnosis, Govt. Medical College and Associated Group of Hospitals, Kota, Rajasthan, India. E-mail: dr.dharmrajmeena9875@ 123456hotmail.com
                Article
                Publisher ID: JCN-1-221
                DOI: 10.4103/2249-4847.106006
                PMC ID: 3762055
                PubMed ID: 24027732
                SO-VID: 49272800-be37-4313-8022-764a874f277a
                Copyright © Copyright: © Journal of Clinical Neonatology
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Subject: Case Report

                Keywords: mermaid syndrome,oligohydramnios,sirenomelia
                Data availability:
                Keywords: mermaid syndrome, oligohydramnios, sirenomelia

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