A Case of 13q- Syndrome with Anorectal Malformation

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  • 13 番染色体異常に伴った鎖肛の 1 例
  • 13バン センショクタイ イジョウ ニ トモナッタ サコウ ノ 1レイ

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An 18 month old female infant with anovestibular fistula associated with 13q- syndrome with hypertelorism, micrognathia, short neck and mental retardation was successfully treated for anovestibular fistula by staged approach with immediate colostomy in neonatal period and corrective surgery for anorectal malformation at the age of 18 months. A chromosomal analysis revealed 46, XX, del (13) (q22) or 46, XX, del (13) (q22q33) suggesting this patient is with 13q- syndrome. A literal review showed that 27 cases of 13q-, 29 of r13, 12 of Dq and 24 of rD have ever been reported to date. The incidens of an association of anorectal anomalies in these cases was 14 percent. There is no reasonable explanation available to this relation today. This paper summarizes our experience with the presenting case focusing on the relation of anorectal anomaly to 13q- syndrome.

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