Urorectal septum malformation sequence: Report of thirteen additional cases and review of the literature

Patricia G. Wheeler, David D. Weaver, Mercy O. Obeime, Gail H. Vance, Marilyn J. Bull, Luis F. Escobar

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

We present the findings of 13 additional cases of the urorectal septum malformation (URSM) sequence, and review the literature. The URSM sequence consists of ambiguous genitalia concurrent with absence of perineal and anal openings. The sex ratio of the 13 new cases was 7 males to 6 females and from the literature 21 males and 28 females. In addition, 11 of the 13 new cases had anorectal atresia with 5 of the cases also having partial agenesis of the colon. Bilateral renal agenesis was present in 3 of the 13 cases, unilateral renal agenesis occurred in 6, and dysplastic kidneys were found in 10. The URSM sequence is a lethal condition with long-term survival reported in only 3 of a total of 62 literature and new cases. Recurrence of this condition has not been reported.

Original languageEnglish (US)
Pages (from-to)456-462
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume73
Issue number4
DOIs
StatePublished - Dec 31 1997

Keywords

  • Ambiguous genitalia
  • Anorectal atresia
  • Renal agenesis
  • Urethral agenesis
  • Urorectal septum malformation sequence

ASJC Scopus subject areas

  • Genetics(clinical)

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