Marcia L Feldkamp, Lorenzo D Botto, Emmanuelle Amar, Marian K Bakker, Eva Bermejo-Sánchez, Sebastiano Bianca, Mark A Canfield, Eduardo E Castilla, Maurizio Clementi, Melinda Csaky-Szunyogh, Emanuele Leoncini, Zhu Li, R Brian Lowry, Pierpaolo Mastroiacovo, Paul Merlob, Margery Morgan, Osvaldo M Mutchinick, Anke Rissmann, Annukka Ritvanen, Csaba Siffel, John C Carey
Cloacal exstrophy presents as a complex abdominal wall defect thought to result from a mesodermal abnormality. Anatomically, its main components are Omphalocele, bladder Exstrophy and Imperforate anus. Other associated malformations include renal malformations and Spine defects (OEIS complex). Historically, the prevalence ranges from 1 in 200,000 to 400,000 births, with higher rates in females. Cloacal exstrophy is likely etiologically heterogeneous as suggested by its recurrence in families and occurrence in monozygotic twins...
November 15, 2011: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics