On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence.
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.
Heyroth-Griffis
Cristin A
CA
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202-5251, USA. dweaver@iupui.edu
Weaver
David D
DD
Faught
Philip
P
Bellus
Gary A
GA
Torres-Martinez
Wilfredo
W
D034861:Abdominal Wall / Q000002:abnormalities*; D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis* / Q000209:etiology; D037881:Aborted Fetus / Q000002:abnormalities; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities*; D001746:Bladder Exstrophy / Q000150:complications* / Q000209:etiology; D002988:Cloaca / Q000002:abnormalities*; D005260:Female; D005865:Gestational Age; D006801:Humans; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000209:etiology; D008297:Male; D011247:Pregnancy; D014564:Urogenital Abnormalities / Q000150:complications* / Q000209:etiology