Download PDF
Am J Perinatol 2004; 21(7): 395-401
DOI: 10.1055/s-2004-835314
Copyright © 2004 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Rare Manifestations of Sirenomelia Syndrome: A Report of Five Cases

Vasiliki Drossou-Agakidou1 , Chariklia Xatzisevastou-Loukidou2 , Vasiliki Soubasi1 , Eyanthia Kostopoulou3 , Alexandra Laporda1 , Afroditi Pantzaki3 , Stamatia Agelidou3 , Georgios Kremenopoulos1
  • 1Department of Neonatology, Aristotle University of Thessaloniki, Greece
  • 2Department of Pediatrics (A'), Aristotle University of Thessaloniki, Greece
  • 3Department of Pathology, Ippokratio General Hospital of Thessaloniki, Greece
Further Information

Publication History

Publication Date:
08 October 2004 (online)

    Permissions and Reprints

Five cases of sirenomelia presented with rare manifestations are discussed. Three neonates were born alive and died within 2 to 12 hours after birth. One case was the offspring of a triple in vitro fertilization pregnancy with history of early intrauterine death of one of the triplets. The main features included fusion of lower extremities (five of five), renal agenesis (three of five), polycystic renal dysplasia (two of five), anal atresia with large bowel hypoplasia (three of five), pulmonary hypoplasia (four of five), and single umbilical artery (five of five). Other features that have only rarely been associated with sirenomelia included concurrence of congenital heart disease and neuroblastoma, gallbladder agenesis, and upper extremity defects.

KEYWORDS

Caudal regression syndrome - IVF - neuroblastoma - VACTERL

REFERENCES

  • 1 Stocker J T, Heifetz S A. Sirenomelia: a morphological study of 33 cases and review of the literature.  Perspect Pediatr Pathol. 1987;  10 7-50
    PubMedGoogle Scholar
  • 2 Duncan P A, Shapiro L R, Klein R M. Sacrococcygeal dysgenesis association.  Am J Med Genet. 1991;  41 153-161
    CrossrefPubMedGoogle Scholar
  • 3 Kallen B, Castilla E E, Lancaster P AL et al.. The cyclops and the mermaid: an epidemiological study of two types of rare malformation.  J Med Genet. 1992;  29 30-35
    PubMedGoogle Scholar
  • 4 Duncan P A, Shapiro L R. Interrelationships of the hemifacial microsomia: VATER, VATER, and sirenomelia phenotypes.  Am J Med Genet. 1993;  47 75-84
    CrossrefPubMedGoogle Scholar
  • 5 Hilbelink D R, Kaplan S. Sirenomelia: analysis in the cadmium and lead-treated hamster.  Teratog Carcinog Mutagen. 1986;  6 431-440
    PubMedGoogle Scholar
  • 6 Sarpong S, Headings V. Sirenomelia accompanying exposure of the embryo to cocaine.  South Med J. 1992;  85 545-547
    PubMedGoogle Scholar
  • 7 Padmanabhan R. Retinoic acid-induced caudal regression syndrome in the mouse fetus.  Reprod Toxicol. 1998;  12 139-151
    CrossrefPubMedGoogle Scholar
  • 8 Abu-Abed S, Dolle P, Metzger D, Beckett B, Chambon P, Petkovich M. The retinoic acid-metabolising enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures.  Genes Dev. 2001;  15 226-240
    CrossrefPubMedGoogle Scholar
  • 9 Wei X, Sulic K K. Pathogenesis of caudal dysgenesis/sirenomelia induced by ochratoxin A in chick embryos.  Teratology. 1996;  53 378-379
    CrossrefPubMedGoogle Scholar
  • 10 Rudd N L, Klimek M L. Familial caudal dysgenesis: evidence for a major dominant gene.  Clin Genet. 1990;  38 170-175
    PubMedGoogle Scholar
  • 11 Langer B, Stoll C, Nicolau R, Gasser B, Schlaede G. Sirenomelia and situs inversus: Case report and review of the literature.  Fetal Diagn Ther. 1996;  11 79-80
    PubMedGoogle Scholar
  • 12 Hagan D M, Ross A J, Strachan T et al.. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.  Am J Hum Genet. 2000;  66 1504-1515
    CrossrefPubMedGoogle Scholar
  • 13 Catala M. Genetic control of caudal development.  Clin Genet. 2002;  61 89-96
    CrossrefPubMedGoogle Scholar
  • 14 Adra A, Cordero D, Mejides A, Yasin S, Salman F. O'Sullivan MJ. Caudal regression syndrome: aetiopathogenesis, prenatal diagnosis and perinatal management.  Obstet Gynecol Surv. 1994;  49 508-516
    PubMedGoogle Scholar
  • 15 Stevenson R E, Jones K L, Phelan M C et al.. Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues.  Pediatrics. 1986;  78 451-457
    PubMedGoogle Scholar
  • 16 Mc Allen M I. Fetal vascular disruptions: mechanisms and some resulting birth defects.  Pediatr Ann. 1981;  10 219-233
    PubMedGoogle Scholar
  • 17 Padmanabhan R, Naruse I, Shiota K. Caudal dysgenesis in staged human embryos: Carnegie stages 16-23.  Am J Med Genet. 1999;  87 115-127
    CrossrefPubMedGoogle Scholar
  • 18 Chen C P, Shih S L, Liu F F, Jan S W. Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.  J Med Genet. 1997;  34 252-255
    PubMedGoogle Scholar
  • 19 Lynch S A, Wright C. Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabetic mother.  Clin Dysmorphol. 1997;  6 75-80
    PubMedGoogle Scholar
  • 20 Opitz J M, Zanni G, Reynolds J F, Gilbert-Barness E. Defects of blastogenesis.  Am J Med Genet. 2002;  115 269-286
    CrossrefPubMedGoogle Scholar
  • 21 Abu-Abed S, Dolle P, Metzger D et al.. Developing with lethal RA levels: genetic ablation of Rarg can restore the viability of mice lacking Cyp26a1 .  Development. 2003;  130 1449-1459
    CrossrefPubMedGoogle Scholar
  • 22 Di Lorenzo M, Brandt M L, Veilleux A. Sirenomelia in an identical twin: a case report.  J Pediatr Surg. 1991;  26 1334-1336
    CrossrefPubMedGoogle Scholar
  • 23 Ericson A, Kallen B. Congenital malformations in infants born after IVF: a population based study.  Hum Reprod. 2001;  16 504-509
    CrossrefPubMedGoogle Scholar
  • 24 Sills E S, Moomjy M, Zaninovic N et al.. Human zona pellucida micromanipulation and monozygotic twinning frequency after IVF.  Hum Reprod. 2000;  15 890-895
    CrossrefPubMedGoogle Scholar
  • 25 Anthony S, Buitendijk S E, Dorrepaal C A, Lindner K, Braat D DM, den Ouden A L. Congenital malformations in 4224 children conceived after IVF.  Hum Reprod. 2002;  17 2089-2095
    CrossrefPubMedGoogle Scholar
  • 26 Pharoah P O, Adi Y. Consequences of in-utero death in a twin pregnancy.  Lancet. 2000;  355 1597-1602
    CrossrefPubMedGoogle Scholar
  • 27 Kapur R P, Mahony B S, Nyberg D A, Resta R G, Shepard T H. Sirenomelia associated with a “vanishing twin”.  Teratology. 1991;  43 103-108
    CrossrefPubMedGoogle Scholar
  • 28 Chappard D, Lauras B, Fargier P, Knopf J F. Sirenomelia and multicystic renal dysplasia. Apropos of 2 cases.  J Genet Hum. 1983;  31 403-411
    PubMedGoogle Scholar
  • 29 Murphy J J, Fraser G C, Blair G K. Sirenomelia: a case of the surviving mermaid.  J Pediatr Surg. 1992;  27 1265-1268
    CrossrefPubMedGoogle Scholar
  • 30 Lynch S A, Wright C. Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabetic mother.  Clin Dysmorphol. 1997;  6 75-80
    PubMedGoogle Scholar
  • 31 Rodriguez J I, Palacios J. Craniorachischisis totalis and sirenomelia.  Am J Med Genet. 1992;  43 732-736
    CrossrefPubMedGoogle Scholar
  • 32 Halder A, Pahi J, Chaddha V, Agarwal S S. Sirenomelia sequence associated with craniorachischisis totalis, limb reduction and primitive care.  Indian Pediatr. 2001;  38 1041-1045
    PubMedGoogle Scholar
  • 33 Rossi L, Lin A E, Frigiola A. Neuroblastoma and congenital cardiovascular malformations.  Pediatrics. 1996;  97 258-261
    PubMedGoogle Scholar
  • 34 Kallen B, Winberg J. Caudal mesoderm pattern of anomalies: from renal agenesis to sirenomelia.  Teratology. 1974;  9 99-111
    CrossrefPubMedGoogle Scholar
  • 35 Quan L, Smith D W. The VATER association: vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects.  J Pediatr. 1973;  82 104-107
    PubMedGoogle Scholar
  • 36 Abu-Abed S, MacLean G, Fraulob V, Chambon P, Petkovich M, Dolle P. Differential expression of the retinoic acid-metabolizing enzymes CYP26A1 and CYP26B1 during murine organogenesis.  Mech Dev. 2002;  110 173-177
    CrossrefPubMedGoogle Scholar

Vasiliki Drossou-AgakidouM.D. 

28 Glinou Street, 54352 Thessaloniki, Greece

      >