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Results for “ANUS, IMPERFORATE”

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PubMed1990

Penile agenesis: a fatal variation of an uncommon lesion.

Two male neonates (46XY karyotype) were born with a triad of penile agenesis associated with imperforate anus and complete absence of the median raphe. Both patients died of renal dysplasia and secondary pulmonary hypoplasia shortly after birth. This triad appears to be secondary to a lack of caudal mesoderm migration during month 1 of gestation, leading to severe developmental defects in the caudal axis. In all reported cases to date this triad of findings has been incompatible with extrauterine life.

Abnormalities, Multiple↗
PubMed1988

Urethral replacement with ureter.

Proximal or total urethral replacement was performed in 8 patients using distal ureter. This was accomplished by basing the ureteral segment solely on a vascular pedicle arising from the internal iliac artery. Diagnoses included classical bladder exstrophy in 4 patients, cloacal exstrophy in 3 and an imperforate anus with hypoplasia of the bladder neck and urethra in 1. Continence was achieved by a tunneled submucosal reimplantation into either the bladder (4 cases), gastric reservoir (2) or colonic reservoir (2). Although an isolated distal segment of ureter was used in each case, all segments have remained viable. With limited followup (5 to 44 months) continence with either normal voiding or intermittent catheterization has been achieved in 7 of the 8 patients. A distal ureteral segment should be considered potentially useful in the construction or reconstruction of the proximal (male) or total (female) urethra in patients with congenital urethral malformations.

Anus, Imperforate↗
PubMed2000

Signet ring cell carcinoma of a pulled-through sigmoid colon mimicking a primary invasive bladder tumor: case report and review of the literature.

Primary signet ring cell carcinoma of the urinary bladder and colon are rare disease entities that are aggressive, difficult to manage, and portend a poor prognosis. We present a case report of a 25-year-old man born with an imperforate anus who developed signet ring cell carcinoma of the pulled-through sigmoid colon that mimicked a primary invasive bladder tumor. Despite radical surgery and adjuvant radiation, the patient died of his disease 7 months after surgery.

Adenocarcinoma, Mucinous↗
PubMed2003

How a family is affected when a child is born with anorectal malformation. Interviews with three patients and their parents.

Increased knowledge about families with a malformed child affects nursing practice. This study illuminates the experiences and psychosocial situation of 3 patients with imperforate anus and their parents. A qualitative method has been used to analyze the data. We found that the parents' experiences of suffering were overwhelming and that the 3 patients had been depressed during periods. The patients were not as open as their parents; we need to devise better tools to explore and understand children's experiences. The children and their parents need special care and an opportunity to express their anxieties.

Adaptation, Psychological↗
PubMedDate not supplied

Caudal regression syndrome: MR appearance.

This article reports a case of caudal regression syndrome with hypoplasia of the sacrum, accompanied by an imperforate anus with ano-vestibular fistula. Magnetic resonance images showed a characteristic wedge-shaped cord terminus and the separation of anterior and posterior spinal roots at the level of the cauda equina.

Anus, Imperforate↗
PubMed2000

Urorectal septum malformation sequence: prenatal sonographic diagnosis in two sets of discordant twins.

Urorectal septum malformation sequence (URSMS) is a rare congenital malformation, which includes ambiguous genitalia, a phallus-like structure, imperforate anus, bladder, vaginal and rectal fistulas and Müllerian duct defects. We report two cases of prenatally diagnosed URSMS, both occurring in two sets of discordant twins. To the best of our knowledge, this is the first antenatal description of such an anomaly. The first fetus, one of a set of monochorionic, monoamniotic twins was detected sonographically at 21 weeks of gestation due to an enlarged phallus-like formation. The second fetus, one of dichorionic, diamniotic twins, was suspected of having an abnormally enlarged rectum at 13 weeks of gestation. The diagnosis of URSMS was established at 29 weeks of gestation by showing abnormal female external genitalia, with a dilated bowel that contained echogenic foci due to enterolithiasis. The diagnosis of both cases was confirmed postnatally. Sonographic findings and differential diagnosis are presented.

Abnormalities, Multiple↗
PubMed2001

Renal anomalies in the VATER animal model.

BACKGROUND PURPOSE: Renal anomalies are a prominent feature of the VATER association. Administration of Adriamycin to timed-pregnant rats resulted in a spectrum of anomalies similar to the human VATER association. The aim of this study is to describe the renal anomalies in the Adriamycin animal model. METHODS: Timed-pregnant Sprague-Dawley rats were injected with Adriamycin intraperitoneally at a dose of 2 mg/kg on days 6 through 9 of gestation. Full-term fetuses were fixed in Bouin's solution and serial transverse sections were analyzed by light microscopy. All specimens were compared with suitable controls. RESULTS: In experimental animals, renal anomalies were found in 98% of the examined fetuses. Bilateral hydroureteronephrosis with kinking of the ureters was obvious. Ureteric atresia led to obstructive uropathy. Bladder agenesis occurred in all experimental animals. Mesonephric ducts were seen joining a proximally blind-ending urethra in male animals. In females both paramesonephric ducts ended blindly after joining each other, and this resulted in vaginal atresia. In association with imperforate anus, a recto-urethral and a recto-urogenital fistula was seen in male and female fetuses, respectively. CONCLUSIONS: Bladder agenesis was an important feature in the Adriamycin animal model. Bilateral hydronephrosis resulted from blind-ending ureters.

Abnormalities, Drug-Induced↗
PubMed2002

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.

Anus, Imperforate↗
PubMed1990

Computed tomography and magnetic resonance tomography findings in children operated for anal atresia.

Computerised tomography and magnetic resonance tomography were performed in nine faecally incontinent patients more than eight years after rectoplasty for high imperforate anus. No statistically significant correlation was found between function, i.e. degree of faecal incontinence, and anatomical findings. Thus, in spite of a detailed demonstration of the post-operative anatomy, the information does not seem to be directly applicable in indicating a way to reoperate for faecal incontinence in this group of patients.

Adolescent↗
PubMed1999

Feminizing genital reconstruction, sigmoid vaginal replacement and anorectoplasty as a one-stage procedure for anorectal atresia associated with ambiguous genitalia.

Anorectal atresia associated with male pseudohermaphroditism presents both diagnostic and surgical challenges. In the past, multiple operations were necessary for feminizing genitoplasty in gender-reassigned children with ambiguous genitalia. We combined the repair of an imperforate anus with a feminizing genitoplasty, including sigmoid vaginal replacement using the posterior sagittal approach in a 3-months-old infant. We conclude that a primary complete reconstruction is advantageous and should be performed in this condition.

Anus, Imperforate↗
PubMed2000

A new polyurethane anal plug in the treatment of incontinence after anal atresia repair.

UNLABELLED: 38 totally or partially incontinent patients following imperforate anus repair (age 6-15 years) tested a new polyurethane (PU) anal plug against another, widely used anal plug (PVA) in a randomized crossover trial. Plugs were tested 3 weeks each, data concerning bowel habits, handling and plug-related problems were collected by questionnaire before trial, at time of product change and after trial. RESULTS: 15 of 38 patients did not complete the protocol, among them 6 with anal canal diameters too small for the smallest plug. During plug use, patients experienced enhanced awareness of repletion and urge. Stool consistence did not change in 82% of patients. There were no changes in children constipated prior to study (n = 8/23). 12,123 children were absolutely clean during use of either plug. 15 patients (68%) using the PU plug and 10 (45%) using the PVA plug felt secure from soiling during plug use. 74% of patients preferred the PU plug. Painful plug insertion, a feeling of pressure inside the anal canal and painful plug removal were reported with both plugs, but were less frequent with the PU plug. CONCLUSION: Anal plugs, regardless of their make, offer absolute cleanliness for periods of several hours to 66% of our incontinent patients. The PU plug (Conveen, Coloplast) is preferred by the patients and offers greater security than the PVA plug.

Adolescent↗
PubMed2004

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.

Abnormalities, Multiple↗
PubMed2002

Pallister-Hall syndrome phenotype in mice mutant for Gli3.

Mutations in the GLI3 gene have been identified in several human malformation syndromes. One of these autosomal dominant developmental disorders is Pallister-Hall syndrome (PHS; MIM146510), which is associated with central polydactyly and other malformations. Interestingly, the mutations in the GLI3 transcription factor gene identified in patients with PHS are restricted to the region 3' of the zinc finger-encoding domain, leaving this DNA-binding domain intact. We have investigated the consequences of this mutation on the development of multiple organ systems by introducing a targeted mutation in mice. We found that mice homozygous for the mutation showed a central polydactyly, thus modeling one of the major abnormalities of the human syndrome. Moreover, Gli3-mutant mice displayed a wide range of developmental abnormalities encompassing almost all of the common PHS features, including imperforate anus, gastrointestinal, epiglottis and larynx defects, abnormal kidney development, and absence of adrenal glands. Thus, our Gli3-mutant mice provide an excellent model for studies of both the pathogenesis of PHS and Gli3 functions in the development of the affected organ systems.

Abnormalities, Multiple↗
PubMed1989

Neonatal intestinal obstruction in a developing tropical country: patterns, problems, and prognosis.

The experience with 211 cases of neonatal intestinal obstruction in Lagos, Nigeria, is described in an attempt to define the pattern in a developing country. Some of the major differences from the established pattern in the West include absence of meconium ileus and the relatively low prevalence of duodenal atresia which accounted for 8 per cent of bowel obstruction. Jejuno-ileal atresia and Hirschprung's disease constituted 21 and 14 per cent, respectively. Imperforate anus, as in the West, was the commonest, occurring in 38 per cent. Although neonatal intestinal obstruction was seen throughout the year a peak involving all the major types appeared in the second quarter. This may indicate an aetiological relationship with malaria. Delay in presentation, shortage of personnel, and inadequate facilities were the major problems associated with management of neonatal intestinal obstruction. The overall surgical mortality was 35 per cent; respiratory failure, metabolic disturbances, and malabsorption being the major causes of death.

Anus, Imperforate↗
PubMed1995

Blepharolabioanal syndrome.

A previously unreported syndrome of congenital craniofacial and anorectal anomalies affecting a woman and her two daughters is described. Features include bilateral cleft lip, cleft palate, bilateral upper and lower lid lag, and imperforate anus. The findings are consistent with an autosomal dominant pattern of inheritance. There were no identifiable intrauterine fetal insults. A detailed description of these anomalies, the subsequent surgical corrections, and a discussion of previously unreported syndromes with isolated features are the subject of this report.

Abnormalities, Multiple↗
PubMedDate not supplied

MR and CT demonstration of levator sling in congenital anorectal anomalies.

Demonstration of the levator ani muscle is important in evaluating children with anorectal anomalies. Using magnetic resonance and CT we have imaged the levator sling in three children prior to their definitive surgery for imperforate anus. The levator mechanism was seen as a low signal band extending from the coccyx to the pubis.

Anus, Imperforate↗