ADDITIONAL CONGENITAL-DEFECTS IN ANORECTAL-MALFORMATIONS

From 1974 until 1995 a total of 264 (141 male, 123 female) patients bo rn with an anorectal malformation (ARM) were referred to the Universit y Hospital Nijmegen in the Netherlands. All additional congenital defe cts (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more A CDs were observed in 67% of the patients. In decreasing order the defe cts concerned the uro-genital tract (43%), skeleton (38%), gastrointes tinal tract (24%), circulation (21%), extremities (16%), face (16%), c entral nervous system (15%), respiratory tract (5%), and remaining def ects (5%). Associations were observed in 49% of the patients, mostly ( in 44%) the Vertebral, Anorectal, Cardial, Tracheo-Esophageal, Renal a nd Limb association. In 5% of the patients syndromes were recognized. Sequences were seen in 2% of the patients. Remarkable is the combinati on of trisomy 21 and ARM without a fistula. The combination of ARM and the Zellweger syndrome has not been reported before. Conclusion Almos t all combinations of ARM and ACDs can be classified as an association , syndrome or sequence. ARM-causing agents affect males and females in equal numbers but lead to different expression in the sexes. The orig in of the Omphalocele. Extrophia of the bladder, Imperforate anus, Sac ral anomalies complex probably differs from that of other forms of ARM .