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At least 649 records · Page 36Linked to original sources
PubMed2000

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

The polydactyly, imperforate anus, vertebral anomalies syndrome (PIV, OMIM 174100) was determined as a distinct syndrome by Say and Gerald in 1968 (Say B, Gerald PS. Lancet 1968: 2: 688). We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, renal anomalies, imperforate anus, and hypothalamic hamartoma. Truncation mutations in GL13, a zinc finger transcription factor gene, have been shown to cause PHS. We performed a molecular evaluation on a patient diagnosed with PIV, whose mother, grandfather, and maternal aunt had similar malformations. We sequenced the GLI3 gene in the patient to determine if she had a mutation. The patient was found to have a deletion in nucleotides 2188-2207 causing a frameshift mutation that predicts a truncated protein product of the gene. Later clinical studies demonstrated that the patient also has a hypothalamic hamartoma, a finding in PHS. We concluded that this family had atypical PHS and not PIV. This result has prompted us to re-evaluate the PIV literature to see if PIV is a valid entity. Based on these data and our examination of the literature, we conclude that PIV is not a valid diagnostic entity. We conclude that patients diagnosed with PIV should be reclassified as having VACTERL, or PHS, or another syndrome with overlapping malformations.

Abnormalities, Multiple↗
PubMed2006

PELVIS Syndrome.

BACKGROUND: Large perineal hemangiomas can be associated with congenital anomalies, including anorectal, urinary tract, spine, and external genitalia malformations. OBSERVATIONS: We describe 2 infants with large sacral and perineal hemangiomas, with severe malformation of the external genitalia with ambiguous genitalia in one case and urinary tract malformations and imperforate anus in the other case. These cases are discussed, along with 9 previously reported cases with similar findings. CONCLUSIONS: Large perineal hemangiomas may constitute a distinctive group of associated anorectal, neurologic, renal or urinary tract, and genital defects. We propose the acronym PELVIS syndrome to emphasize the characteristic findings of this syndrome: perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag.

Abnormalities, Multiple↗
PubMed2001

Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism.

The Pallister-Hall syndrome is characterised by a spectrum of anomalies including congenital hypothalamic "hamartoblastoma" hypopituitarism, imperforate anus, polydactyly and various visceral anomalies. Rare familial cases with an autosomal dominant inheritance pattern with variable expressivity have been reported. Cases of more mildly affected individuals with Pallister-Hall syndrome have been described, including cases of asymptomatic individuals. We report a case of Pallister-Hall syndrome with microphallus and without growth hormone deficiency that has been followed successfully for two years. The patient presented postaxial polydactyly of hands, dysplasic nails, imperforate anus, small penis, scrotum bifidum with very thin urethra, bifid epiglottis and a bilateral simian crease. There was vesico-ureteral-reflux, insertional hexadactyly of the left hand and two Y shaped metacarpal with six fingers at the right hand. Brain MR imaging revealed a large sellar and suprasellar mass. A perineal anorectoplasty and a vesicostomy were performed. Laryngeal dyspnea appeared when he was 13 months old. Bronchoscopy revealed anterior synechia of vocal cords with cricoidian stenosis. A tracheostomy was performed. Mental development was normal. No mutation of the zinc finger transcription factor gene, GLI 3 was detected.

Abnormalities, Multiple↗
PubMed1996

The Malone antegrade colonic enema enhances the quality of life in children undergoing urological incontinence procedures.

PURPOSE: Functional alterations of the gastrointestinal and genitourinary tracts, and physical limitations in children with spina bifida, imperforate anus and spinal cord injury challenge the ability to have independent fecal and urinary continence. Urologists have successfully helped these patients achieve urinary continence. We report our experience with the antegrade colonic enema procedure, which allows select individuals to achieve continence of stool, enhancing quality of life. MATERIALS AND METHODS: Since December 1992, 18 antegrade colonic enema procedures were performed in 12 female and 6 male patients 5 to 31 years old of whom 14 had spina bifida, 2 had imperforate anus and 2 had spinal cord injury. Simultaneous urological continence procedures were performed in 8 patients, including appendicovesicostomy in 4, augmentation cystoplasty in 2 and augmentation cystoplasty plus an ileal Mitrofanoff procedure in 2. Four patients previously underwent urological reconstruction. RESULTS: In 24 months of followup (average 6.6) all patients with a functioning stoma remained continent of stool and 17 were continent of urine. Complications related to the antegrade colonic enema procedure occurred in 4 children (22%) of whom 3 required further surgery. Three patients (17%) had minor stomal stenosis. CONCLUSIONS: The antegrade colonic enema procedure is easily performed and it should be considered for any child with significant physical limitations and/or refractory fecal incontinence before urological continence promoting procedures are done.

Adolescent↗
PubMed1994

New approach to assess quality of life in neonatal surgical cases: medical providers' subjective assessment of disease- and condition-related factors, using the linear analogue scale.

A new questionnaire survey of pediatric surgeons and nurses, using the linear analogue scale, was used to determine subjective assessments of patients' quality of life (QOL) with regard to neonatal surgical diseases and conditions, including those involving anal and urinary functions. The results were analyzed according to the medical providers' years of professional experience. For six neonatal surgical diseases, QOL was assessed more favorably by less experienced surgeons and nurses. The result was similar for adulthood diseases. The development of medical technology can be attributed to this trend; however, QOL for patients with diaphragmatic hernia was assessed less favorably by less experienced surgeons (as 66.1%) than by more experienced surgeons (as 81.6%). Current technology has enabled the survival of neonatal surgical patients who are born prematurely and/or who have serious diseases or anomalies. Consequently this leads to poorer assessment of the surviving patients' QOL. QOL for patients with imperforate anus and spina bifida remained less favorably assessed. That of patients with conditions related to anal and urinary dysfunctions also scaled in the same manner. Anal dysfunction was less favorably assessed by less experienced surgeons (as 40.0%) than by more experienced surgeons (as 49.4%). In part, this discrepancy could be attributed to (1) better adjustment by the patients to their condition over time, and (2) greater focus on QOL issues in recent years. With regard to anal function, low QOL assessment correlated strongly with imperforate anus, Hirshsprung's disease, and spina bifida (P < .01).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1994

OEIS complex with craniofacial anomalies--defect of blastogenesis?

We report on a 31-week fetus with hydrocephalus, hypertelorism, microtia, short neck, vertebral and rib defects, scoliosis, omphalocele, exstrophy of bladder, absent external genitalia and pubic rami, imperforate anus, diaphragmatic hernia, defective lobulation of lungs, single kidney, bicornuate uterus, and flexion deformities of the limbs. Similar extensive anomalies in the rostral and caudal regions were described by Russell et al. [Pediatrics, 67:176-182, 1981] and Stewart et al. [Am J Med Genet, 45:426-429, 1993]. The patients described by them had a combination of the oculo-auriculo-vertebral sequence (OAV) and caudal deficiency sequence, whereas the patient reported here can best be described as a combination of OAV and OEIS (omphalocele, exstrophy of bladder, imperforate anus, spinal defects) complexes. The widespread malformations seen in our patient may be the result of an error during blastogenesis.

Abnormalities, Multiple↗
PubMed1982

Screening for latent malformations: cost effectiveness in neonates with correctable anomalies.

A screening program for latent malformations in infants born with surgically correctable anomalies was reviewed to determine its cost effectiveness. Two hundred and seventy six infants with esophageal atresia, imperforate anus, omphalocele, gastroschisis, or diaphragmatic hernia were screened for latent congenital anomalies not detected by the routine history, physical examination, and roentgenograms. While additional malformations were detected, many congenital defects were missed only to become evident later in the infant's course. Routine screening for latent malformations is not cost effective in all infants with surgically correctable anomalies, but directed screening is indicated in selected neonates. Screening IVP's are indicated in patients with esophageal atresia, high pouch imperforate anus and possibly diaphragmatic hernia. Screening IVP's are not indicated in infants with gastroschisis, omphalocele, or females with low pouch imperforate anus who have normal sacral spine films.

Age Factors↗
PubMed1994

Minimally conjoined omphalopagi: a consistent spectrum of anomalies.

Omphalapagus twins constitute less than one third of all siamese twins. Most omphalopagi are attached by a skin bridge that often contains hepatic tissue. Only four cases of omphalopagi attached by an intestinal bridge have been reported. The authors present two additional cases of conjoined twins minimally attached by a small bowel and bladder bridge. In both instances, the spectrum of anomalies included a ruptured omphalocele and imperforate anus with cloacal anomalies. The attachment consisted of an open urachal remnant joining the two bladders, and the short small bowel of twin A attached to the terminal ileum of twin B. Separation was uneventful. For one set of twins, the case part of the proximal colon of twin B was used to lengthen the bowel of twin A. Three of the twins survived and underwent additional procedures for repair of the cloacal anomalies. All four previously reported cases of minimally conjoined omphalopagi presented with a remarkably similar spectrum of anomalies. All had ruptured omphaloceles, imperforate anus with cloacal anomalies, and urachal anomalies. Intestinal connection was consistently at a point corresponding to the Meckel diverticulum site of twin B, with blood supply to the small bowel of twin A, probably via the vitelline artery. The consistent spectrum of anomalies encountered with minimally conjoined omphalopagi allows planning of separation. Caution is required to avoid overlooking the patent urachus, and intestinal lengthening procedures based on the vitelline artery become an important consideration.

Anus, Imperforate↗
PubMed1987

Magnetic resonance imaging as an adjunct to planning an anorectal pull-through.

Magnetic resonance imaging (MRI) is a relatively new diagnostic tool that generates images of sections of the body taken in any plane. We report the use of MRI as a tool to plan surgical procedures in patients with imperforate anus, imaging the pelvis and lumbosacral spine in the sagittal, transverse, and coronal planes. MRI clearly reveals the extent of the pelvic musculature even in patients with severe sacral agenesis. MRI is extremely useful in assessing patients under consideration for reoperation, clearly demonstrating the relationship between the pulled through colon and the "striated muscle complex." A very useful addition is the ability, on the same study, to detect previously unsuspected anomalies such as tethered cord, lipoma of the filum terminale, and renal dysplasia. We conclude that MRI is a very useful examination in selected patients with imperforate anus.

Adolescent↗
PubMed1989

Selected midline defect associations: a population study.

Using data from the population-based Metropolitan Atlanta Congenital Defects Program, the association of seven relatively common and easily ascertainable groups of midline defects was studied. These defects were neural tube defects (575 patients), oral clefts (633 patients), omphalocele (141 patients), esophageal atresia/tracheoesophageal fistula (88 patients), imperforate anus (151 patients), conotruncal heart defects (289 patients), and diaphragmatic hernia (75 patients). Known syndromes were excluded from the analysis. Of 1743 infants with at least one midline defect, 86 (4.9%) had at least a second midline defect, and 9 (0.5%) had two additional midline defects. Pairwise analysis of the seven defects shows that, although most midline defects tend to be statistically associated with other midline defects, specific combinations of midline defects are seen. For example, neural tube defects are more strongly associated with cleft lip with or without cleft palate than with cleft palate alone; imperforate anus is more strongly associated with spina bifida than with anencephaly or encephalocele. Moreover, some combinations of defects are not observed (eg, neural tube defect and conotruncal heart defect, clefts and diaphragmatic hernia, omphalocele and esophageal atresia/tracheoesophageal fistula). These data point to the need for further refinement in the study of the association of midline defects in terms of embryologic and pathogenetic mechanisms because most midline defects tend to occur as an isolated defect, some midline defects occur with nonmidline defects (such as limb defects), and specific associations among midline defects are observed.

Abnormalities, Multiple↗
PubMed2006

The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature.

We present two cases of OEIS (omphalocele, exstrophy, imperforate anus, spinal defects) complex -MIM 258040 and a review of the literature. Case 1 was a 14-year-old girl who presented at 30 weeks' gestation. An ultrasound examination showed an omphalocele and spina bifida; the bladder was not visualised. She went into spontaneous labour two weeks later and the baby died shortly after birth. A full post-mortem examination was refused, but the mother did agree to an external examination, skin biopsy for fibroblast culture, X rays and MR imaging. The MR imaging showed a pelvic kidney, a large omphalocele containing the other kidney, liver, bowel and a fluid filled structure thought to represent an exstrophy of the bladder (EB). Case 2 was a 30-year-old woman who had an ultrasound examination at 20 weeks' gestation; this showed an omphalocele, but the bladder was not visualised. The pregnancy was subsequently terminated and a post-mortem examination showed a low set umbilical cord associated with a small omphalocele; there was an imperforate anus; a blind ending rectum terminated in the omphalocele. We conclude that these two cases illustrate the variability of the OEIS complex.

Abnormalities, Multiple↗
PubMed1976

Crossed ectopia of solitary kidney. A report of two cases and a review of the literature.

Two cases of crossed ectopia of solitary kidney found in two boys are present. This rare anomaly has been accompanied by imperforate anus and inguinal hernia in one boy and by imperforate anus, urethrorectal fistula, cryptorchism, and penoscrotal and vertebral anomalies in the other. 21 cases have been collected and the present two patients appear to be the 22nd and 23rd cases reported in the world literature.

Abnormalities, Multiple↗
PubMed2001

The Mitrofanoff procedure: 20 years later.

PURPOSE: We review our initial cases of continent cystostomy to assess long-term functional results and complications after a minimum of 15 years of followup. MATERIALS AND METHODS: Between 1976 and 1984, 23 continent cystostomies were performed on 15 boys and 8 girls with neuropathic bladders. Mean patient age at surgery was 8 years and 4 months (range 3 to 16) and mean followup was 20 years (range 15 to 23). The neurological lesions were due to 21 myelomeningocele (2 associated with an imperforated anus in 21 cases), spinal neuroblastoma in 1 and complex genitourinary malformation associated with an imperforated anus in 1. Closure of the bladder neck was performed in 21 cases (16 during the same procedure, 5 secondarily) and 2 did not undergo this procedure. The appendix was used as the catheterizable conduit in 20 cases, 1 ureter in 2 and a bladder tube in 1. Bladder augmentation was performed during the same procedure in 2 cases and at a later stage in 8. Five patients presented with unilateral or bilateral secondary vesicoureteral reflux. RESULTS: One death occurred after conversion to cutaneous diversion due to a postoperative infection leading to a ventriculoperitoneal valve infection. The remaining 22 patients were followed every 6 to 12 months. No metabolic disorder, secondary malignancy or spontaneous bladder perforation was noted. Bilateral upper tract deterioration was found in 10 cases leading to secondary bladder augmentation by enterocystoplasty in 6 and creation of noncontinent diversion in 4. Leakage occurred after bladder neck closure in 5 patients. Bladder stones were found in 5 patients (2 had prior bladder augmentation). Complications related to the conduit included stomal stenosis or persistent leakage in 11 cases, which required surgical revision and/or repeated dilations and 1 noncontinent diversion after revision failure. Five patients presented with intestinal occlusion due to volvulus in 3 and adhesion in 2. We noted that after 10 years of followup complications were rare and concerned mostly the catheterizable conduit. Therefore, 16 patients had a good and stable result while 6 have noncontinent diversion. CONCLUSIONS: The rate of complications has a tendency to decrease with time. The results obtained in this series may appear less satisfactory than those of more recent series, which may be due to the fact that these oldest continent cystostomies correspond to acquisition of experience of this novel approach, and to a period when the concept of low pressure reservoir was not yet established and bladder augmentations were not routinely performed. Since 1984 no continent cystostomy performed at our institution was converted into a noncontinent diversion. This series with long followup demonstrates that continent cystostomy is a procedure with lasting efficiency.

Adolescent↗
PubMed1995

Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?

The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpos, postaxial polydactyly, and hypothalamic hamartoblastoma and discuss the different aetiological considerations of both syndromes and implications for clinical management.

Abnormalities, Multiple↗
PubMed1990

Use of MRI in evaluation of anorectal anomalies.

Congenital anorectal anomalies present with a wide spectrum of anatomical deformity. The level of atresia, the extent of the development of the pelvic musculature, and the presence of associated anomalies all greatly influence treatment options. Further complexity may be introduced by previous attempts at correction. Magnetic resonance imaging (MRI) recently has been suggested as an effective tool in evaluation of such patients for surgical repair. Thirteen patients undergoing evaluation for either primary or secondary operations for imperforate anus were studied with MRI. Age range was newborn to 26 years. These patients had anorectal deformities in various stages of treatment--from newly diagnosed imperforate anus in the newborn to patients who had undergone previous surgical repair of their deformity with poor results. In newborns, MRI was very useful in assessing the level of atresia and determining whether perineal repair was advisable. In older patients with high atresias, MRI was useful in planning operative strategy and predicting the outcome by providing information about the pelvic musculature. This information was directly related to the size of the patient, ie, the larger, and therefore the older the patient, the more detail MRI provided about the pelvic musculature. Especially in secondary cases, this information proved to be helpful in determining the cause of the initial failure, ie, lack of adequate pelvic musculature or poor placement of the distal colon in relation to the striated muscle complex at the initial operation. MRI demonstrated previous unsuspected lesions such as tethered cord, sacral deformity or urinary tract abnormalities.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2001

Perineo-pelvic diaphragmatic split: anorectal exstrophy.

Anorectal malformations are among the most common congenital anomalies that require neonatal surgery. Although the headlines of anorectal malformations present with a spectrum of defects of this region, generally, imperforate anus and its fistulous or nonfistulous connections are examined. Here the authors present a boy with anorectal malformation, with sacrococcygeal teratoma and meningocele. Interestingly, the patient had neither imperforate anus nor anorectal stenosis, but had widely open anorectum. This kind of anorectal malformation has never been described previously in the English-language literature.

Anal Canal↗