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Body stalk anomaly and cloacal exstrophy

Authors
Courtney D Stephenson, DO
Charles J Lockwood, MD, MHCM
Andrew P MacKenzie, MD
Section Editors
Louise Wilkins-Haug, MD, PhD
Deborah Levine, MD
Deputy Editor
Vanessa A Barss, MD, FACOG

INTRODUCTION

Body stalk anomaly and cloacal exstrophy are rare abdominal wall defects. Body stalk anomaly is generally considered to be lethal; early, accurate prenatal diagnosis allows parents the option of pregnancy termination. Early, accurate prenatal diagnosis of cloacal exstrophy is also advantageous as it provides an opportunity for discussing the child’s prognosis, particularly bowel, bladder, and sexual function. Parents may consider pregnancy termination or plan for delivery at a tertiary care facility where appropriate multidisciplinary care (eg, maternal fetal medicine, neonatology, and pediatric surgery [urology, neurosurgery, gynecology]) is available [1].

BODY STALK ANOMALY

Body stalk anomaly (also called limb-body wall complex) is a massively disfiguring and generally lethal malformation of the thorax and/or abdomen, often associated with limb defects. The intrathoracic and abdominal organs lie outside the abdominal cavity and are contained within a sac comprised of amnioperitoneal membrane attached directly to the placenta (picture 1) [2,3]. The umbilical cord may be totally absent or extremely shortened. Severe kyphoscoliosis is often present.

Pathogenesis — Possible causes of body stalk anomaly include early amnion rupture with direct mechanical pressure and amniotic bands, vascular disruption of the early embryo, or an abnormality in the germinal disk [4]. Defects in genes related to embryogenesis may play a role [5].

The germinal disk abnormality is thought to represent complete failure of body folding along all three axes (cephalic, caudal, and lateral) during the sixth postmenstrual week [6]. Normal body folding results in separation of the intraembryonic coelom (future peritoneal cavity) from the extraembryonic coelom, formation of the body stalk, and development of the umbilical cord [7]. Aberrant cephalic folding leads to a defect in the thoracic wall and epigastrium, which allows development of ectopia cordis (image 1). Aberrant lateral folding results in herniation of the midabdominal contents into a large wide-based amnioperitoneal sac, which inserts peripherally onto the placental chorionic plate in lieu of an umbilical cord or with a very short umbilical cord.

Due to the extrusion of the intraabdominal contents, the spine and thoracic cavity do not develop symmetrically, which results in severe scoliosis and abnormalities of the axial skeleton. Malrotation of the spine and incomplete closure of the pelvis can lead to malrotated limbs and/or club feet.

                       

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Literature review current through: Nov 2016. | This topic last updated: Wed Nov 02 00:00:00 GMT 2016.
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