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Body stalk anomaly in Denmark during 20 years (1970–1989)

Authors

  • Merete Bugge

    Corresponding author
    1. Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
    • Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark.
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  • How to Cite this Article: Bugge M. 2012. Body stalk anomaly in Denmark during 20 years (1970–1989). Am J Med Genet Part A. 158A:1702–1708.

Abstract

Body stalk anomaly is a severe defect of the abdominal wall with uncovered thoracic and/or abdominal organs. The umbilical cord is absent or very short. Here I present epidemiological and clinical data on 16 infants with body stalk anomaly. The 16 infants represent 3.4% of the 469 infants ascertained in an almost complete nationwide data set of live- and stillborn infants born with abdominal wall defects during the two decades 1970–1989 in Denmark. The prevalence was 0.12 per 10,000 live- and stillborn. Nine of the infants were stillbirths, seven were live births, and they all died shortly after birth. The gestational age at birth varied from 33 to 40 weeks. There was an excess of males M/F ratio: 2.2 (CI: 0.85–10.71). All infants had severe associated malformations. Among the most severe were: severe limb reduction defects (56%), absence of one kidney associated with malformations of genitalia and/or urinary bladder (62%), scoliosis (82%), and anal atresia (57%). A normal karyotype was found in all eight of the infants who were tested. There were two sets of twins; one discordant and one concordant. Mean maternal and paternal ages were 28.5 and 29.5 years, respectively, not significantly different from the mean parental ages of the Danish population during the same period. © 2012 Wiley Periodicals, Inc.

Ancillary