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; received in revised form 12 February 2008; accepted 25 June 2008.

Article Outline

The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the lower sternum, abnormalities of the diaphragmatic pericardium and the anterior diaphragm, and congenital cardiac anomalies. Trisomy 18 has an incidence of about 0.3 per 1000 newborns. We present a case of trisomy 18 with incomplete Cantrell syndrome. The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant), ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity. Trisomy 18 syndrome was unusually combined with the pentalogy of Cantrell. We present this case because of its rarity and high risk of mortality.

Key Words:  Cantrell syndrome , incomplete Cantrell syndrome , pentalogy of Cantrell , trisomy 18

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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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