Analysis of Associated Anomalies in Anorectal Malformation: Major and Minor Anomalies

Abstract

Background: Fifty to sixty percent of patients with anorectal malformation (ARM) have at least one associated anomaly (AA). We determined the incidence of AA with the subtypes of ARM classified in accordance with the Krickenbeck classification and analyzed differences in the incidence rates of major and minor AAs according to organ system. Methods: From January 1999 to May 2017, we retrospectively analyzed congenital anomalies in patients who underwent an anoplasty for ARM at our institution. The AAs were divided into nine organ systems. To analyze the difference in the incidence of AAs, we calculated odds ratios (ORs) using cases of perineal fistula as the base group. Results: Of the 460 patients, 256 (55.7%) were male, 299 (65%) had at least one anomaly, and 274 (59.6%) had major AAs. According to organ system, AAs were most common in the genitourinary (28%), cardiovascular (25%), and spinal/vertebral systems (22.6%). Major AA was most common in the cardiovascular (23%) and spinal/vertebral and genitourinary systems (19.3%). According to ARM subtype, AAs were common in the order of cloaca (93.9%), rectovaginal fistula (85.7%), and recto-bladder neck fistula (85%). For the incidence of AAs, cloaca (OR, 15.7) and recto-bladder neck fistula (OR, 5.74) showed significantly higher ORs. In the analysis of major AAs, the cloaca (OR, 19.77) showed the highest OR, followed by no fistula (OR, 4.78) and recto-bladder neck fistula (OR, 3.83). Conclusion: A considerable number of patients with ARM had AAs. Our data are useful for predicting AAs in patients with ARM.

Role of ultrasonography in screening of spinal dysraphism in infants at risk

“…In our study, we found that 57.9% of the screened patients with ARMs had coexistent spinal dysraphism. This prevalence ranged 16.2% in Ruangtrakool et al [14], 22% in Oh et al [15] and 42% in Esposito et al [17] studies.…”

“…Our study, along with Ruangtrakool et al [14], Oh et al [15] and Jehangir et al [16], implemented the Krickenbeck's classification system for ARMs. In our study, we found that 57.9% of the screened patients with ARMs had coexistent spinal dysraphism.…”

Congenital anomalies of the tubular gastrointestinal tract

“…Associated congenital abnormalities are more common with high malformations, frequently involving the genitourinary system, heart and skeleton 78 , 81 . Abnormalities of the lumbosacral spine are found in over 50% of the “high anomaly” group and include sacral agenesis or hemi-sacral anomalies.…”

Síndrome de Pfeiffer con mutación Trp290Cys del gen FGFR2 y fístula rectovaginal

“…Esta mutación se ha descrito en el síndrome de Antley-Bixler (Oh & Kwon, 2022), sin embargo, en esta entidad, no hay hallazgos de pulgares o dedos de los pies anchos. La paciente presentó fístula rectovaginal, de la cual no encontramos, en la literatura consultada, asociación con el SP, pero sí se ha descrito en otras malformaciones craneofaciales (Oh et al, 2020), como el síndrome de Baller-Gerold (Jones, 2013).…”