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Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics
Author(s) -
Aggarwal Shagun,
Phadke Shubha R.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35950
Subject(s) - cloaca , anatomy , biology , genitourinary system , mesoderm , genetics , embryonic stem cell , gene
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.