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- Title
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.
- Authors
Jen-Chung Chien; Shu-Jen Chen; Chui-Mei Tiu; Yann-Jang Chen; Betau Hwang; Dau-Ming Niu
- 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.
- Subjects
HUMAN abnormalities; VERTEBRAE; DYSPLASIA; CLOACA (Zoology); KIDNEY diseases
- Publication
European Journal of Pediatrics, 2005, Vol 164, Issue 6, p350
- ISSN
0340-6199
- Publication type
Article
- DOI
10.1007/s00431-005-1630-2