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      Conjoined legs: Sirenomelia or caudal regression syndrome?

      case-report

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          Abstract

          Presence of single umbilical persistent vitelline artery distinguishes sirenomelia from caudal regression syndrome. We report a case of a12-year-old boy who had bilateral umbilical arteries presented with fusion of both legs in the lower one third of leg. Both feet were rudimentary. The right foot had a valgus rocker-bottom deformity. All toes were present but rudimentary. The left foot showed absence of all toes. Physical examination showed left tibia vara. The chest evaluation in sitting revealed pigeon chest and elevated right shoulder. Posterior examination of the trunk showed thoracic scoliosis with convexity to right. The patient was operated and at 1 year followup the boy had two separate legs with a good aesthetic and functional results.

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          Sirenomelia, the mermaid syndrome--detection in the first trimester.

          Wolfgang Holzgreve, Sevgi Tercanli, Roberto Lopez Cervera … (2003)
          The sirenomelia sequence with fusion, rotation, hypotrophy or atrophy of the lower limbs in combination with severe urogenital and gastrointestinal malformations is a rare and usually lethal disorder. We present the case of a 28-year-old woman, who was referred to our department because of an intraabdominal cystic structure in the 9th week of gestation. Subsequent scans confirmed the diagnosis of a sirenomelia sequence with the fusion of the lower extremities without fusion of the bones according to Stocker I classification. The size of the intraabdominal cyst decreased during follow-up. After counseling, termination of pregnancy was induced. The postmortem X-ray confirmed the ultrasound diagnosis. The exact etiological mechanism of this malformation is still unknown. An early alteration of the embryological vascular network damaging the caudal mesoderm is thought to lead to arrested development of the lower limbs and other affected organs. The cyst we saw in the 9th week might fit with this theory, either as an expression of the complex malformation of the lower abdomen or as the sonographic appearance of necrosis. Copyright 2003 John Wiley & Sons, Ltd.
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            Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories.

            M Valenzano, R Paoletti, A. Rossi … (2015)
            We aimed to discuss the prenatal diagnosis and pathological features of sirenomelia, and to review current embryogenic theories. We observed two sirenomelic fetuses that were at the 19th and 16th gestational week respectively. In the former, transvaginal ultrasound revealed severe oligohydramnios and internal abortion, whereas bilateral renal agenesis, absence of a normally tapered lumbosacral spine, and a single, dysmorphic lower limb were detected in the latter. In both cases, X-rays and autoptic examination allowed categorization on the basis of the skeletal deformity. Subtotal sacrococcygeal agenesis was present in both cases. Agenesis of the urinary apparatus and external genitalia and anorectal atresia were also found. Classification of sirenomelia separately from caudal regression syndrome is still debated. Recent advances in the understanding of axial mesoderm patterning during early embryonic development suggest that sirenomelia represents the most severe end of the caudal regression spectrum. Third-trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios related to bilateral renal agenesis, whereas during the early second trimester the amount of amniotic fluid may be sufficient to allow diagnosis. Early antenatal sonographic diagnosis is important in view of the dismal prognosis, and allows for earlier, less traumatic termination of pregnancy.
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              Prenatal diagnosis of Caudal Regression Syndrome : a case report

              Halil Aslan, Halil Yanik, Nurgul Celikaslan … (2001)
              Background Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Case presentation We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis. Conclusion Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Indian J Orthop
                Journal ID (iso-abbrev): Indian J Orthop
                Journal ID (publisher-id): IJOrtho
                Title: Indian Journal of Orthopaedics
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0019-5413
                ISSN (Electronic): 1998-3727
                Publication date (Print): Jul-Aug 2013
                Volume: 47
                Issue: 4
                Pages: 413-416
                Affiliations
                [1]Department of Physical Medicine and Rehabilitation, SVNIRTAR, Olatpur, Cuttack District, Odisha, India
                [1 ]Department of Physiotherapy, SVNIRTAR, Olatpur, Cuttack District, Odisha, India
                [2 ]Department of Prosthetics and Orthotics, SVNIRTAR, Olatpur, Cuttack District, Odisha, India
                Author notes
                Address for correspondence: Dr. Sakti Prasad Das, Department of Physical Medicine and Rehabilitation, SVNIRTAR, Olatpur, P.O. Bairoi, Cuttack District, Odisha - 754 010, India. E-mail: sakti2663@ 123456yahoo.com
                Article
                Publisher ID: IJOrtho-47-413
                DOI: 10.4103/0019-5413.114936
                PMC ID: 3745698
                PubMed ID: 23960288
                SO-VID: c458be41-0c7c-49c4-b760-4a39c8924016
                Copyright © Copyright: © Indian Journal of Orthopaedics
                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.

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                Categories
                Subject: Case Report

                ScienceOpen disciplines: Orthopedics
                Keywords: caudal regression syndrome,ectromelia,sirenomelia,conjoined legs
                Data availability:
                ScienceOpen disciplines: Orthopedics
                Keywords: caudal regression syndrome, ectromelia, sirenomelia, conjoined legs

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