Abstract
The urorectal septum malformation sequence (URSMS) consists of multiple systems anomalies including ambiguous genitalia, the absence of a perineal opening, an imperforate anus, and urogenital, colonic and lumbosacral anomalies. We describe a 3-day-old female infant with characteristic URSMS and review its clinical manifestations, outcomes and putative pathogenesis. We also compare its characteristics with those of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia (VATER) association. Conclusion:Although defects of the urorectal septum malformation sequence and the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association overlap, we believe that they are separate entities. Differentiating the urorectal septum malformation sequence from vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association is helpful to develop appropriate clinical investigations and search for the aetiology and pathogenesis of these diseases.
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Abbreviations
- URSMS :
-
urorectal septum malformation sequence
- VATER :
-
vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia
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Chien, JC., Chen, SJ., Tiu, CM. et al. Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature. Eur J Pediatr 164, 350–354 (2005). https://doi.org/10.1007/s00431-005-1630-2
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DOI: https://doi.org/10.1007/s00431-005-1630-2