J. Niedzielski Congenital anomalies associated with anorectal malformations—16-year experience of one surgeon Arch Med Sci 5 4 2009 596 601

Abstract

The author analyzed the incidence of associated anomalies in a group of 109 consecutive children with anorectal malformations (ARMs) 56 boys (51.4%) and 53 girls (48.6%) and compared their distribution between sexes and high and low ARMs. Associated anomalies were classified in 10 categories: urologic, vertebral (including sacrum), other skeletal, central nervous system (CNS), tracheoesophageal, cardiovascular, genital, gastrointestinal, miscellaneous, and chromosomal abnormalities. The incidence of ARMs in the presented series was 1 in 2300 live births with a mortality rate of 13.8%. Seventy-six children (69.7%) had low ARM and 33 (30.3%) had high defect according to Peña. High ARMs occurred almost 3 times more frequently in boys than in girls (P = .006), and low ARMs prevailed in girls (P = .006). One hundred fifty-eight associated anomalies were found in 72 children (66.1%) with ARMs. Overall, the urinary tract anomalies (38.5% of patients with ARMs), vertebral defects (33.9%), and genital anomalies (18.3%) were the most common. Cardiovascular anomalies were observed in 13.7% of babies with ARMs. Central nervous system anomalies were found in 11% of cases. Both, severe cardiovascular and CNS anomalies influenced mortality rate in analyzed group of patients. The tracheoesophageal anomalies (3.7%), defects classified as miscellaneous (5.5%), and Down's syndrome (2.8%) were the least observed malformations associated with ARMs. VATER association was observed in 13 cases. VACTERL association was not observed. Boys with ARMs had significantly higher risk of having coexisting defects than girls with ARMs (P < 10−5). Boys with high ARMs had the highest risk of having associated anomalies, comparing with boys with low ARMs and girls with low and high ARMs (P = .002). The associated urologic, vertebral, genital, and CNS anomalies occurred significantly more frequently in children with high ARMs than in babies with low defects (P < 10−5; P = .003). Urinary and vertebral defects were more frequent in boys with high ARMs (P < 10−5). Girls had higher incidence of urinary tract anomalies coexisting with low ARMs and vertebral defects with high ARMs (P = .003). Multiple (2 or more) anomalies were found in more than half of children with defects associated with ARMs (40/72 [55.5%]). Coexistence of urinary and vertebral anomalies was observed most frequently.