Prenatal sonographic features associated with an imperforate anus and rectourethral fistula.
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Functional results after surgical correction of anorectal malformations were assessed on a clinical basis using the Kelly score and by manometric study. In all, 65 patients, aged 5-28 years, were interviewed personally, and 51 of these 65 had manometric studies to evaluate postoperative continence. The manometric study was also performed on 45 normal children as control group. Continent patients characteristically had a marked high-pressure zone, as did the normal subjects. On the other hand, in the patients with fair or poor results, the anorectal pressure profile had no marked high-pressure zone in the anal canal. The presence of normal anal pressure at rest as well as adequate anorectal pressure difference was found to correlate well with continence. In the patients with perineoplasty, the anorectal reflex correlated well with continence, but not in patients treated by abdominoperineal rectoplasty.
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Two patients with the prune belly syndrome demonstrated colon calcifications and anorectal malformations. Bladder outlet obstruction was present in both cases. Calcifications were also found in the renal collecting system and bladder of one patient. No fistula was demonstrated between the genitourinary tract and bowel in either infant at autopsy. The calcification in the colon and urinary tract is probably secondary to stasis.
This case illustrates a complex of congenital ano-rectal and renal abnormalities not previously reported. Colonic ureteral ectopy, an extremely rare occurance, was also found in this patient and an explanation of the probable embryogenesis is proposed. The roentgen pattern of intraluminal calcified meconium is also illustrated.
Manometric assessment was performed in 54 infants with congenital ano-rectal anomalies including those with a blindly ending rectum (6 cases) or with an ectopic bowel outlet either in the perineum (25 cases), vulva (8 cases), vagina (8 cases), urethra (5 cases) or bladder (2 cases). Infants with an externally accessible orifice were investigated preoperatively whereas those with an internal orifice or no orifice could only be evaluated after surgical correction. In all operated cases presented, the ectopic rectal opening was preserved together with its surrounding smooth musculature. It was transplanted ventral to the puborectalis sling into the anal dimple if present. A normal functioning internal sphincter was observed in all infants even after transplantation. Anal resting tone was normal in all cases with mean values in the various subgroups ranging from 32 +/- 10 mmHg to 51 +/- 6 mm Hg. Frequency of anal slow pressure wave activity ranged from 11.6 +/- 1.5/min to 15.7 +/- 1.3/min. The recto-anal inhibitory reflex was present in all cases. The term fistula should be reserved for morphologically and physiologically abnormal microscopic communications. Failure to appreciate the presence of a normal internal sphincter may account for poor functional results after surgery. The results demonstrate the importance of preserving the internal sphincter in surgical correction of anorectal anomalies.
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We present a case of an 80-day-old boy with major anomalies consistent with polyoligodactyly/imperforate anus/vertebral anomalies (PIV) syndrome. In addition, he had facial abnormality, tetrapolyhypodactyly, and sacral meningocele. Polydactyly was of postaxial and central types, and all the distal phalanges were absent. The association of such anomalies enabled pinpointing of the development of this complex anomaly from the 4th to the 6th weeks of the embryonic phase. This condition is extremely rare, and the estimated incidence is 3 in one billion.
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We report a case of a persistent cloaca and pseudoexstrophy associated with congenital pouch colon in a native-born American female child. This unusual anomaly occurs in two clinical settings. It has been reported in India as an isolated anomaly occurring primarily in males. Pouch colon also occurs in female patients with pseudoexstrophy or closed cloacal exstrophy. The typical anatomic features of this anomaly are discussed.