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  • Perinatal/Neonatal Casebook
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Perinatal/Neonatal Case Book

Caudal Regression Syndrome Versus Sirenomelia: A Case Report

Journal of Perinatology volume 22, pages 168–170 (2002)Cite this article

Abstract

We describe a newborn with clinical features of sirenomelia including fused lower limbs with medial position, absence of fibula, anal atresia, bilateral renal agenesis, and a single large umbilical artery. Recent literature describing the etiology of sirenomelia and relationship to caudal regression syndrome is reviewed.

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References

  1. Duhamel B . From the mermaid to anal imperforation: the syndrome of caudal regression Arch Dis Child 1961 36: 152–5

    Article  CAS  PubMed  Google Scholar 

  2. Ross AJ, Ruiz-Perez V, Wang Y et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis Nat Genet 1998 20: 358–61

    Article  CAS  Google Scholar 

  3. Bohring A, Lewin OS, Reynolds FJ et al. Polytopic anomalies with agenesis of the lower vertebral column Am J Med Genet 1999 87: 99–114

    Article  CAS  PubMed  Google Scholar 

  4. Stevenson RE, Jones KL, Phelan MC et al. Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues Pediatrics 1986 78: 451–7

    CAS  PubMed  Google Scholar 

  5. Twickler D, Budorick N, Pretorius D, Grafe M, Currarino G . Caudal regression versus sirenomelia: sonographic clues J Ultrasound Med 1993 12: 323–30

    Article  CAS  PubMed  Google Scholar 

  6. Stocker JT, Heifetz SA . Sirenomelia: a morphological study of 33 cases and review of the literature Perspect Pediatr Pathol 1987 10: 7

    CAS  PubMed  Google Scholar 

  7. Padmanabhan R, Naruse I, Shiota K . Caudal regression in staged human embryos: Carnegie stages 16–23 Am J Med Genet 1999 87: 115–27

    Article  CAS  Google Scholar 

  8. Perez-Aytes A, Montero L, Gomez J, Paya A . Single aberrant umbilical artery in a fetus with severe caudal defects: sirenomelia or caudal dysgenesis Am J Med Genet 1997 69: 409–12

    Article  CAS  Google Scholar 

  9. Adra A, Cordero D, Mejides A, Yasin S, Salman F, O'Sullivan MJ . Caudal regression syndrome: etiopathogenesis, prenatal diagnosis and perinatal management Obstet Gynecol Surv 1994 49: 508–16

    Article  CAS  Google Scholar 

  10. Sirtori M, Ghidini A, Romero R, Obbins JC . Prenatal diagnosis of sirenomelia J Ultrasound Med 1989 8: 83–8

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

We gratefully acknowledge the assistance of H. Moniem, MD, Department of Pathology; Ayodeji Fayemi, MD, Department of Radiology; and M. Linda Morales, photographer, Lincoln Medical and Mental Health Center, Bronx, NY.

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Authors and Affiliations

  1. Department of Pediatrics, Lincoln Medical and Mental Health Center, 234 East 149th Street, The Bronx, NY, USA

    Bibhuti B Das MD, Benamanahalli K Rajegowda MD, Ronald Bainbridge MD & Philip F Giampietro MD, PhD

  2. Division of Human Genetics, Weill Medical College of Cornell University, 525 East 68th Street, New York, NY, USA

    Philip F Giampietro MD, PhD

Authors
  1. Bibhuti B Das MD
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  2. Benamanahalli K Rajegowda MD
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  3. Ronald Bainbridge MD
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  4. Philip F Giampietro MD, PhD
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Das, B., Rajegowda, B., Bainbridge, R. et al. Caudal Regression Syndrome Versus Sirenomelia: A Case Report. J Perinatol 22, 168–170 (2002). https://doi.org/10.1038/sj.jp.7210598

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