Caudal duplication syndrome

Abstract

Objective: To present the clinical and roentgenographic features of caudal duplication syndrome.

Design: Retrospective review of the medical records and all available imaging studies.

Setting: Two university-affiliated teaching hospitals.

Participants: Six children with multiple anomalies and duplications of distal organs derived from the hindgut, neural tube, and adjacent mesoderm.

Interventions: None.

Results: Spinal anomalies (myelomeningocele in two patients, sacral duplication in three, diplomyelia in two, and hemivertebrae in one) were present in all our patients. Duplications or anomalies of the external genitalia and/or the lower urinary and reproductive structures were also seen in all our patients. Ventral herniation (in one patient), intestinal obstructions (in one patient), and bowel duplications (in two patients) were the most common gastrointestinal abnormalities.

Conclusions: We believe that the above constellation of abnormalities resulted from an insult to the caudal cell mass and hindgut at approximately the 23rd through the 25th day of gestation. We propose the term caudal duplication syndrome to describe the association between gastrointestinal, genitourinary, and distal neural tube malformations.