1/26. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.A male patient with aphallia, anal stenosis, tetralogy of fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries.- - - - - - - - - - ranking = 1keywords = anal atresia, atresia (Clic here for more details about this article) |
2/26. A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst.We report here a rare case of caudal regression syndrome associated with an intraspinal arachnoid cyst. The patient was a 6-month-old baby girl with multicomplex congenital abnormalities: sacrococcygeal dysgenesis and ventral curvature, large terminal cyst (myelocystocele), spinal arachnoid cyst, cerebellar hypertrophy (suspected), high imperforate anus, partial dysgenesis of the large intestine, omphalocele, atresia of the vagina, bilateral incomplete ureter duplication, incomplete pseudoduplicated bladder and bilateral talipes equinovarus. We performed plastic repair of the myelocystocele and perineal lesion for caudal regression syndrome and partial removal of the cyst wall for the intraspinal arachnoid cyst. She has been well for 3 years postoperatively, and her mental development is normal.- - - - - - - - - - ranking = 0.10096078148789keywords = anus, atresia (Clic here for more details about this article) |
3/26. Congenital short colon with imperforate anus (pouch colon). Report of a case.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.- - - - - - - - - - ranking = 0.28124594535354keywords = anus (Clic here for more details about this article) |
4/26. Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly.BACKGROUND: Caudal duplication is a spectrum of rare congenital anomalies with a possible heterogeneous pathogenesis including incomplete separation of monovular twins. methods: We report an autopsy case of a full-term infant with incomplete caudal duplication syndrome associated with multiple anomalies. RESULTS: These anomalies included a duplicated penis; double urinary bladder with an attenuated tunica muscularis; duplication of lower bowel with two ilia, appendices and colons; colonic hypogangliosis and left imperforated anus associated with rectourethral fistula. Other anomalies consisted of sacral meningomyelocele, sacral duplication with hypoplastic left sacrum and pelvic bones, muscle atrophy and hypoplasia of the left lower extremity, abnormal lobation of liver with stomach entrapment, omphalocele, and right atrial isomerism syndrome. The complex pattern of anomalies suggests the possibility that partial caudal duplication might be part of the spectrum of conjoined twinning.- - - - - - - - - - ranking = 0.070311486338384keywords = anus (Clic here for more details about this article) |
5/26. Double phallus.The condition of diphallus is very rare, which occurs in about 1 in 5,000,000 live births. Two cases of diphallus managed recently are presented. The first patient had complete diphallia with associated imperforate anus and the second patient had incomplete diphallia with associated patent urachus and hydrocoele.- - - - - - - - - - ranking = 0.070311486338384keywords = anus (Clic here for more details about this article) |
6/26. Continent catheterizable urinary conduit constructed from defunctionalized colon.The authors describe a technique for construction of a continent catheterizable stoma from distal defunctionalized colon in a patient with imperforate anus, urethral atresia, and sacral agenesis.- - - - - - - - - - ranking = 0.10096078148789keywords = anus, atresia (Clic here for more details about this article) |
7/26. Imperforate anus and colon calcification in association with the prune belly syndrome.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.- - - - - - - - - - ranking = 0.28124594535354keywords = anus (Clic here for more details about this article) |
8/26. Separation of Siamese twins in Bratislava.At the pediatric surgical clinic in Bratislava, in the year 2000, we successfully carried out the separation of Siamese twins, which we classified as "ischiopagus tetrapus" . The pelvic ring, the gastrointestinal tract and the urogenital system were all malformed. There was a common terminal ileum and only a short segment of the large intestine with a blind end. This was a case of non-developed anal segment and rectum. Each of the twins had two kidneys and two commonly shared urinary bladders. There were two uteruses, which were both bicornuate in nature with a fallopian tube arising from each of the horns as well as an ovary. The orifices of both urinary bladders and those of the two uteruses joined into a common urogenital sinus. The external ostia of this sinus represented a bizarre fissure with a single skin fold similar to the labium majus, located dorsally at the point of fusion of the pelvic structures. The act of separation was performed in two stages. Separation of the gastrointestinal tract was urgent due to the severe ileus caused by aplasia of the anus and the rectum. This first stage procedure was performed on the third day of admission (24.2.2000) after the babies had spent a month in other health institutions. The definitive separation was carried out a month after the first procedure (28.3.2000) following the optimal stabilization of the functions of the gastrointestinal tract. The uropoietic and genital systems were separated. A new pelvic ring and a pelvic floor were formed. The anterior abdominal wall was reconstructed and plastic correction of the skin in the gluteal and perineal regions was performed. The colostomies are functioning well and the twins pass well-formed stools. Lucia has long dry intervals between mictions. Andrea has shorter dry intervals. The girls have recently celebrated their third birthday. Their mental development is excellent; they speak Slovak and Hungarian languages. They have a well-developed locomotive apparatus, without any movement impairments. (Tab. 1, Fig. 16, Ref. 10.)- - - - - - - - - - ranking = 0.070311486338384keywords = anus (Clic here for more details about this article) |
9/26. Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature.The urorectal septum malformation sequence (URSMS) consists of multiple systems anomalies including ambiguous genitalia, the absence of a perineal opening, an imperforate anus, and urogenital, colonic and lumbosacral anomalies. We describe a 3-day-old female infant with characteristic URSMS and review its clinical manifestations, outcomes and putative pathogenesis. We also compare its characteristics with those of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia (VATER) association. CONCLUSION: Although defects of the urorectal septum malformation sequence and the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association overlap, we believe that they are separate entities. Differentiating the urorectal septum malformation sequence from vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association is helpful to develop appropriate clinical investigations and search for the aetiology and pathogenesis of these diseases.- - - - - - - - - - ranking = 7.0703114863384keywords = anal atresia, anus, atresia (Clic here for more details about this article) |
10/26. Complete diphallia.A case of true complete diphallia associated with imperforate anus in a 3-year-old boy is reported. The embryogenesis and classification of diphallia are discussed.- - - - - - - - - - ranking = 0.070311486338384keywords = anus (Clic here for more details about this article) |
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