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.
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.


CONCLUSIONS
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.
Chien
Jen-Chung
JC
Department of Paediatrics, Taipei Veterans General Hospital, National Yang Ming University, Taipei, Taiwan.
Chen
Shu-Jen
SJ
Tiu
Chui-Mei
CM
Chen
Yann-Jang
YJ
Hwang
Betau
B
Niu
Dau-Ming
DM
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001006:Anus, Imperforate / Q000175:diagnosis*; D002988:Cloaca / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D014138:Tracheoesophageal Fistula; D014564:Urogenital Abnormalities / Q000175:diagnosis*
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