41/332. Sonographic features of anal atresia at 12 weeks. Anorectal atresia results from abnormal development of the anorectal septum. prenatal diagnosis is difficult but the condition may be suspected by the sonographic demonstration of a dilated colon. We present the sonographic features of a fetus with anal atresia and a ventricular septal defect at 12 weeks of gestation. This case illustrates that a dilated colon may be present in association with fetal anal atresia as early as 12 weeks. ( info) |
42/332. Calcified intraluminal meconium in newborn males with imperforate anus. Enterolithiasis in the newborn. Five cases are reported and reference is made to 3 previous similar cases of calcified intraluminal meconium in newborn males with "imperforate anus." A rectourinary fistula was found in most of the patients; none of the cases had meconium peritonitis. The calcifications may develop in areas of prolonged stasis; the possible added role of the mixture of urine and meconium in utero is raised. ( info) |
43/332. Developmental field defects: coming together of associations and sequences during blastogenesis. We report on two patients with an unusual combination of multiple congenital anomalies including holoprosencephaly, encephalocele, and additional defects commonly observed in the VACTERL and schisis "associations." One of the infants had a chromosome abnormality characterized by partial duplication and deletion of chromosome 18. VACTERL association was characterized recently as a primary developmental field defect (DFD) [Martinez-Frias et al., 1998: Am J Med Genet 76:291-296]. In some cases, sequences may also represent uncomplicated DFDs. We suggest that findings in both of these cases represent abnormalities of blastogenesis involving the primary field resulting in holoprosencephaly and VACTERL and schisis anomalies, and show that similar primary DFDs are causally heterogeneous. ( info) |
44/332. Two orifices in the perineum of a girl with imperforate anus: possibility of uterovaginal agenesis associated with rectovestibular fistula. The authors describe 4 cases of rectovestibular fistula associated with uterovaginal atresia. The diagnosis of the associated uterovaginal atresia was missed in the neonatal period in all 4. It was diagnosed in 2 cases at puberty while investigating for amenorrhea; the other 2 were discovered during the repair of anorectal malformation in early childhood. A variety of techniques were used successfully for vaginal reconstruction. The authors believe that the incidence of such an association is very similar to that of imperforate anus with rectovaginal fistula and therefore suggest that if there are 2 orifices in the perineum of a girl with imperforate anus, it could be either a rectovaginal fistula or a rectovestibular fistula with uterovaginal agenesis. They recommend that all such neonates have an endoscopy or a magnetic resonance imaging done to distinguish between the 2 conditions. This distinction is of importance because the latter would require a concomitant vaginal reconstruction procedure along with anorectoplasty. ( info) |
45/332. Translevator anal anomalies with cutaneous fistulae passing deep to the scrotum. methods: The authors present a series of 9 patients collected from 4 centers with translevator anal anomalies, each of which has a fistula tracking forward deep to the scrotum and opening at the peno-scrotal junction. Whereas some would appear to be covered ani in type, others are deeper and would appear to fit in with an intermediate type of classification emphasizing the idea of a "spectrum" of malformation. RESULTS: The anatomic arrangement, associated anomalies (eg, 2 had hypospadias), and surgical management is described briefly in each case. Careful examination may be necessary to identify the fistula. CONCLUSIONS: It is recommended that the surgery be individualized depending on the findings. On a theoretical embryologic basis there is abnormality in the formation of the outer genital folds, and there also may be abnormality in some cases of the inner genital folds. ( info) |
46/332. Unusual presentations of pouch colon. Pouch colon associated with high anorectal malformation is a rare anomaly. Two unique anatomic variants of congenital pouch colon, never reported before, are presented. ( info) |
47/332. Treatment of high imperforate anus with large omphalocele in a baby boy. Synchronous treatment of high imperforate anus with large omphalocele is a challenge for pediatric surgeon. A case of this unusual condition in a male neonate is presented. The high imperforate anus was repaired by primary one-stage posterior sagittal anorectoplasty, and the omphalocele was treated nonoperatively. Recovery was uneventful. ( info) |
48/332. Congenital pouch colon: Massive redilatation of the tubularized colonic pouch after pull-through surgery. BACKGROUND/PURPOSE: Children with a type I/II congenital pouch colon (CPC) malformation associated with imperforate anus usually are treated by subtotal excision of the colonic pouch, tubularization of the remaining portion, and pull-through of the tubularized colon during definitive surgery. The authors report 3 patients treated in this fashion who presented 2 to 10(1/2) years later with massive redilatation of the previously tubularized colon and enterocolitis methods: There were no anal strictures or malpositioning of the pulled through bowel. Contrast enema showed massive redilatation of the colonic pouch. Near-total excision of the redilated pouch with anastomosis of normal proximal ileum/colon with the retained distal portion of the pouch was performed by the abdominal approach. RESULTS: Anastomotic leaks occurred in 2 patients but were treated successfully. Postoperatively, the patients had relief from their abdominal symptoms and improvement in fecal continence. CONCLUSIONS: The colonic pouch in CPC has a marked tendency to undergo redilatation, even after tubularization. The surgical procedure described here for the treatment of these patients appears to be satisfactory. ( info) |
49/332. Pseudoexstrophy associated with megalourethra. Pseudoexstrophy is a rare exstrophy variant that has musculoskeletal stigmata of the exstrophy complex without any associated defect in the urinary system. The authors report a case of pseudoexstrophy with scaphoid megalourethra, and anorectal malformation. Kidneys and ureters were normal. Preliminary surgery consisted of a divided high sigmoid colostomy. The rare combination of pseudoexstrophy and megalourethra is discussed. ( info) |
50/332. Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry. Many types of chromosome mosaicism have been identified in cases of hypomelanosis of Ito, often in association with chromosome instability; however, there have been very few cases with diploid-tetraploid mosaicism described in the literature. We present a patient with a tetraploid mosaicism: a 17-year-old girl who has hypomelanosis of Ito in association with diploid/tetraploid/t(1;6) mosaicism. She had multiple congenital anomalies of omphalocele, exstrophy of bladder, duodenal web, and imperforate anus. These features have not been described previously in diploid-tetraploid mosaicism. ( info) |