Pediatrics & Neonatology
Volume 49, Issue 3 , Pages 84-87 , June 2008

Trisomy 18 Syndrome with Incomplete Cantrell Syndrome

  • Yi-Jen Hou

      Affiliations

    • Department of Pediatrics, Division of Neonatology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • Department of Pediatrics, Division of Genetics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Fong-Lin Chen

      Affiliations

    • Department of Pediatrics, Division of Cardiology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Yan-Yan Ng

      Affiliations

    • Department of Pediatrics, Division of Neonatology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Jui-Ming Hu

      Affiliations

    • Department of Pediatrics, Division of Neonatology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Suh-Jen Chen

      Affiliations

    • Department of Pediatrics, Division of Neonatology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • Department of Pediatrics, Division of Genetics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Jia-Yuh Chen

      Affiliations

    • Department of Pediatrics, Division of Neonatology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • Department of Pediatrics, Division of Genetics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Pen-Hua Su

      Affiliations

    • Department of Pediatrics, Division of Neonatology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • Department of Pediatrics, Division of Genetics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • Corresponding Author InformationCorresponding author. Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, 110 Chien-Kuo North Road, Section 1, Taichung 402, Taiwan

Received 17 September 2007 ,Revised 12 February 2008 ,Accepted 25 June 2008.

References 

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  2. Byron FX . Ectopia cordis: report of a case with attempted operative correction . J Thorac Surg . 1948;17:717–727
  3. Major JW . Thoracoabdominal ectopia cordis: report of a case successfully treated by surgery . J Thorac Surg . 1953;26:306–317
  4. Mulder DG , Crittenden IH , Adams FH . Complete repair of a syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart: excision of left ventricular diverticulum . Ann Surg . 1960;151:113–122
  5. Martin RA , Cunniff C , Erickson L , Jones KL . Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex . Am J Med Genet . 1992;42:839–841
  6. Toyama WM . Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: a case report and review of the syndrome . Pediatrics . 1972;50:778–792
  7. Sepulveda W , Weiner E , Bower S , Flack NJ , Bennett PR , Fisk NN . Ectopia cordis in a triploid fetus: first-trimester diagnosis using transvaginal color Doppler ultrasonography and chorionic villus sampling . J Clin Ultrasound . 1994;22:573–575
  8. Symbas PN , Ware RE . A syndrome of defects of the thoraco-abdominal wall, diaphragm, pericardium, and heart . J Thorac Cardiovasc Surg . 1973;65:914–919
  9. Spitz L , Bloom KR , Milner S , Levin SE . Combined anterior abdominal wall, sternal, diaphragmatic, pericardial, and intracardiac defects: a report of five cases and their management . J Pediatr Surg . 1975;10:491–496
  10. Bick D , Markowitz RI , Horwich A . Trisomy 18 associated with ectopia cordis and occipital meningocele . Am J Med Genet . 1988;30:805–810
  11. Fox JE , Gloster ES , Mirchandani R . Trisomy 18 with Cantrell pentalogy in a stillborn infant . Am J Med Genet . 1988;31:391–394
  12. Jones KL . Trisomy 18 syndrome . In:  Jones KL editors. Smith's Recognizable Patterns of Human Malformation . 6th ed.. Philadelphia: Elsevier Saunders; 2006;p. 13–17
  13. Lin HY , Lin SP , Chen YJ , et al.   Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004 . Am J Med Genet A . 2006;140:945–951
  14. Sherod C , Sebire NJ , Soares W , Snijders RJ , Nicolaides KH . Prenatal diagnosis of trisomy 18 at the 10-14-week ultra-sound scan . Ultrasound Obstet Gynecol . 1997;10:387–390
  15. Barrow MV , Simpson CF , Miller EJ . Lathyrism: a review . Q Rev Biol . 1974;49:101–128
  16. Carmi R , Boughman JA . Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field . Am J Med Genet . 1992;42:90–95
  17. Haynor DR , Shuman WP , Brewer DK , Mack LA . Imaging of fetal ectopia cordis: roles of sonography and computed tomography . J Ultrasound Med . 1984;3:25–27
  18. Abu-Yousef MM , Wray AB , Williamson RA , Bonsib SM . Antenatal ultrasound diagnosis of variant of pentalogy of Cantrell . J Ultrasound Med . 1987;6:535–538
  19. Bryke CR , Breg WR . Pentalogy of Cantrell . In:  Buyse ML editors. Birth Defects Encyclopedia . Oxford: Blackwell Scientific Publications; 1990;p. 1375–1376

PII: S1875-9572(08)60018-2

doi: 10.1016/S1875-9572(08)60018-2

Pediatrics & Neonatology
Volume 49, Issue 3 , Pages 84-87 , June 2008

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