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On the spectrum of limb‐body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence
Author(s) -
HeyrothGriffis Cristin A.,
Weaver David D.,
Faught Philip,
Bellus Gary A.,
TorresMartinez Wilfredo
Publication year - 2007
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.31691
Subject(s) - cloaca , anatomy , cloacal exstrophy , abdominal wall , biology , sequence (biology) , bladder exstrophy , medicine , genetics
The limb‐body wall complex (LBWC) is characterized by abdominal wall and limb defects, exstrophy of the cloaca (EC) by lack of closure of the lower abdominal wall and lack of cloacal septation, and the urorectal septum malformation sequence (URSMS) by absent perineal and anal openings, ambiguous genitalia, colonic, and renal anomalies. We report here on three fetuses whom have overlapping features of these disorders. Also we have reviewed the literature for cases with overlapping features of two or three of the above conditions. From the description of the cases reported on here and those in the literature, we propose that the overlap of features found among LBWC, EC, and URSMS represent a continuous spectrum of abnormalities, rather than three separate conditions. As such, we suggest that all three conditions may share a common etiology or pathogenetic mechanism. © 2007 Wiley‐Liss, Inc.