title: Urorectal septum malformation sequence: report of thirteen additional cases and review of the literature.
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.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
authors.forename: P G
authors.initials: PG
authors.lastname: Wheeler
authors.forename: D D
authors.initials: DD
authors.lastname: Weaver
authors.forename: M O
authors.initials: MO
authors.lastname: Obeime
authors.forename: G H
authors.initials: GH
authors.lastname: Vance
authors.forename: M J
authors.initials: MJ
authors.lastname: Bull
authors.forename: L F
authors.initials: LF
authors.lastname: Escobar
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012007:Rectum / Q000002:abnormalities*; D014564:Urogenital Abnormalities / Q000235:genetics*; D014566:Urogenital System / Q000473:pathology