期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 143A, 期 10, 页码 1025-1031出版社
WILEY
DOI: 10.1002/ajmg.a.31691
关键词
omphalocele; imperforate anus; anal atresia; OEIS complex; ambiguous genitalia; absent perineal openings
The limb-body wall complex (LBWC) is characterized fly 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 It 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. (c) 2007 Wiley-Liss, Inc.
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