Conflict of interest: none.
Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics
Article first published online: 17 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 7, pages 1718–1721, July 2013
How to Cite
2013. Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics. Am J Med Genet Part A 161A:1718–1721., .
- Issue published online: 19 JUN 2013
- Article first published online: 17 MAY 2013
- Manuscript Accepted: 18 FEB 2013
- Manuscript Received: 5 JAN 2013
- urorectal septum malformation;
- developmental field defect
Urorectal septum malformation sequence (URSM) is a pattern of malformation which encompasses abnormalities of the perineal orifices, external genitalia, genitourinary system, and anorectum. The spectrum ranges from a complete form with absence of perineal openings and persistent cloaca to milder/partial forms usually with one perineal opening and internal abnormalities of anorectum, urethra, and Müllerian structures. URSM is felt to arise due to abnormalities of the caudal mesoderm, which constitutes the urorectal septum. Here, we report two male siblings, affected with a spectrum of anomalies simulating URSM. This is the first report of recurrence of URSM in sibs. It suggests the existence of hitherto unknown genetic mechanisms for this pattern of malformation. © 2013 Wiley Periodicals, Inc.