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PubMed2005

Perforation of the colon in neonates.

PURPOSE: Gastrointestinal perforation is a catastrophic condition in neonates, especially in premature neonates. Although perforation is commonly observed in the small intestine during the neonatal period, perforation of the colon is a rare condition. This study analyzed the clinical findings and results of perforation of the colon in neonates. METHODS: Between 1989 and 2004, 8 neonates were treated for spontaneous perforation of the colon at our institute. These patients were retrospectively reviewed. RESULTS: Gestational ages ranged from 36 to 41 weeks. Seven patients weighed above 2500 g, whereas one patient weighed 1800 g at birth. Perforations developed within 7 days after birth in 6 patients and before birth in two. Associated bowel diseases included rectosigmoid type of Hirschsprung's disease in two patients, immature ganglia in one, imperforate anus in one, colonic atresia in one, and necrotizing enterocolitis in one. An obvious cause was not identified in the remaining two. Six patients without definite anatomic obstructions, such as imperforate anus or colonic atresia, required evaluations for suspected Hirschsprung's disease. All 8 patients underwent colostomy and recovered from peritonitis. Seven survived, but one died of sudden infant death syndrome. CONCLUSIONS: In this study, perforation of the colon during the neonatal period mostly occurred in term or near-term neonates and carried a good prognosis. During management, it was important to identify Hirschsprung's and its allied disorders as a cause of perforation.

Colonic Diseases↗

PubMed1996

Zimmer phocomelia: delineation by principal coordinate analysis.

We present a 46,XX stillborn fetus with tetraphocomelia, absence of ears, severe hypoplasia of nose, cleft palate, pulmonary hypoplasia, imperforate anus and vagina, and phallus-like structure on an otherwise undefined perineum. The pattern of abnormalities resembles the tetraphocomelic condition described by Zimmer et al. in 1985. Tetraphocomelia, ear/nose hypoplasia with facial clefts, pulmonary hypoplasia, and defects of the caudal end including imperforate anus, and abnormal genitalia constitute a distinct pattern of malformation termed Zimmer phocomelia. Principal coordinate analysis with Gower's similarity index supported the clinical impression that cases reported by Zimmer and the present case are distinct from other phocomelic conditions. Although Zimmer phocomelia is currently referred to as "X-linked amelia," documentation of a female case with a penis-like structure in this report as well as consanguinity in the original family in Zimmer's report indicates that this condition is likely inherited in an autosomal recessive fashion. Zimmer phocomelia may be a more appropriate name than X-linked amelia.

Abnormalities, Multiple↗

PubMedDate not supplied

[Fryns syndrome--pre and postnatal diagnosis].

Fryns, in 1979, delineated an autosomal recessive lethal syndrome of multiple congenital malformations, including diaphragmatic defect, craniofacial anomalies and distal limb hypoplasia. So far, 33 cases of Fryns syndrome have been published. We here report the fourth case of Fryns syndrome with consanguinous parents. It was the second child of healthy Turkish parents (first cousins). Pregnancy was complicated by massive polyhydramnios since week 32. Imperforate anus and diaphragmatic defect was detected by ultrasound. Spontaneous delivery occurred in week 37, the child died 5 hrs after birth. Major symptoms were a partial aplasia of the left diaphragm, coarse facies, absent nails of the fifth fingers and fifth toes, VSD, imperforate anus and cerebellar heterotopia. We discuss, in the context of our observation and of the reports in the literature, the possible heterogeneity of Fryns syndrome and the possibility of prenatal diagnosis.

Abnormalities, Multiple↗

PubMed1982

Congenital asplenia and anomalies of the gastrointestinal tract.

Congenital asplenia has been traditionally described in association with cardiopulmonary anomalies (Ivemark syndrome). A case of congenital asplenia with duplication of the hindgut and genitourinary tract, myelomeningocele, situs inversus abdominis, and imperforate anus generated interest in review of the gastrointestinal anomalies of 36 patients who died of the disease in Childrens Hospital of Los Angeles. A significant number were found to have situs inversus, malrotation of the bowel, esophageal varices, duplication and hypoplasia of the stomach, Hirschsprung's disease, imperforate anus, and duplication of the hindgut. These patients present with symptoms referable to their gastrointestinal anomalies and may not draw attention to the concomitant cardiopulmonary anomalies or to the absence of the spleen. It becomes important, therefore, to establish the presence of the spleen in infants suffering from various anomalies of the gastrointestinal tract because of the overwhelming septicemia that is known to complicate the clinical management of these patients.

Adolescent↗

PubMed1992

Vertebral hypersegmentation in a case of the VATER association.

Associations are statistical clusterings of malformations not known to be polytopic field defects, sequences, or syndromes. The VATER association is a nonrandom association of malformations including vertebral, anal, cardiovascular, tracheoesophageal, genitourinary, and limb defects. The caudal "dysplasia" sequence of lumbosacral vertebral defects, genitourinary abnormalities, and imperforate anus overlaps the VATER association. The cloacal membrane agenesis sequence is a pattern of malformations resulting in the absence of anal, genital, and urinary orifices with associated malformations in surrounding structures. We report on a 37-week gestation liveborn male with oligohydramnios deformations, tetralogy of Fallot, "H-type" tracheoesophageal fistula, duodenal atresia, imperforate anus, urethral atresia, undescended testes, absent right kidney with a small dysplastic left kidney, a "cloacal-like" abnormality of the bladder and distal bowel, and thoracic and lumbar vertebral hypersegmentation. This patient has manifestations of the VATER association, the caudal dysplasia sequence, and the cloacal membrane agenesis sequence. We propose that some of his defects may represent a malformation sequence secondary to excessive embryonic flexion resulting from vertebral hypersegmentation.

Abnormalities, Multiple↗

PubMed2002

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive. No diagnostic cytogenetic abnormalities have been documented in affected patients, and no molecular genetic studies have been reported. We have reviewed 117 cases diagnosed as Fraser syndrome or cryptophthalmos published since the comprehensive review of Thomas et al in 1986 in order to validate the published diagnostic criteria and to delineate the phenotype associated with this syndrome. Our series showed more females (57/117) than males and consanguinity was present in 29/119 (24.8%). Eighty-eight patients satisfied the diagnostic criteria for Fraser syndrome (75%). Cryptophthalmos was present in 103/117 (88%), syndactyly in 72/117 (61.5%), and ambiguous genitalia in 20/117 (17.1%). Ear malformations were recorded in 69/117 (59%), and renal agenesis in 53/117 (45.3%). Use of the published diagnostic criteria excluded several patients with cryptophthalmos and one or more physical feature(s) consistent with Fraser syndrome. The frequency of additional anomalies in our series was also higher than previously reported (for example, imperforate anus or anal stenosis were found in 34/117 (29%) compared with 2/124 (2%) in the series of Thomas et al (1986) and choanal stenosis or atresia was present in 7/117 (6%) compared to 0/124. These findings emphasise the clinical variability associated with Fraser syndrome and support genetic heterogeneity of the syndrome. We also noted patterns of anomalies (for example, bicornuate uterus with imperforate anus or anal stenosis and renal malformations) that are found in other syndromes and associations without cryptophthalmos, suggesting that common modifier genes may explain some of the phenotypic variation in Fraser syndrome.

Abnormalities, Multiple↗

PubMed1995

Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature.

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo-esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well-documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%). PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST.

Abnormalities, Multiple↗

PubMed2004

Vitamin supplements and the risk for congenital anomalies other than neural tube defects.

Randomized trials, supported by many observational studies, have shown that periconceptional use of folic acid, alone or in multivitamin supplements, is effective for the primary prevention of neural tube defects (NTDs). Whether this is true also for other congenital anomalies is a complex issue and the focus of this review. It is useful to consider the evidence not only for specific birth defects separately but, importantly, also for all birth defects combined. For the latter, the Hungarian randomized clinical trial indicated, for periconceptional multivitamin use, a reduction in the risk for all birth defects (odds ratio (OR) = 0.53, 95% confidence interval (CI) = 0.35-0.70), even after excluding NTDs (OR = 0.53, 95% CI = 0.38-0.75). The Atlanta population-based case-control study, the only large observational study to date on all major birth defects, also found a significant risk reduction for all birth defects (OR = 0.80, 95% CI = 0.69-0.93) even after excluding NTDs (OR = 0.84, 95% CI = 0.72-0.97). These and other studies also evaluated specific anomalies, including those of the heart, limb, and urinary tract, as well as orofacial clefts, omphalocele, and imperforate anus. For cardiovascular anomalies, two studies were negative, whereas three, including the randomized clinical trial, suggest a possible 25-50% overall risk reduction, more marked for some conotruncal and septal defects. For orofacial clefts, six of seven case-control studies suggest an apparent reduced risk, which could vary by cleft type and perhaps, according to some investigators, by pill dosage. For limb deficiencies, three case-control studies and the randomized trial estimated approximately a 50% reduced risk. For urinary tract defects, three case-control studies and the randomized trial reported reduced risks, as did one study of nonsyndromic omphalocele. All these studies examined multivitamin supplement use. With respect to folic acid alone, a reduced rate of imperforate anus was observed among folic acid users in China. We discuss key gaps in knowledge, possible avenues for future research, and counseling issues for families concerned about occurrence or recurrence of these birth defects.

Adult↗

PubMed1987

Posterior sagittal anorectoplasty for adults. A sphincter-saving operation.

We performed posterior sagittal anorectoplasty to treat two adult patients. One patient had an idiopathic stricture extending from the proximal sigmoid colon to the anus. The second patient was born with a high imperforate anus and, following a pull-through procedure as an infant, remained totally incontinent of feces. Both patients now have excellent fecal continence following this operation. The posterior sagittal anorectoplasty may be used to preserve rectal continence in selected adults.

Adult↗

PubMed1985

Surgically correctable fecal incontinence.

A significant percentage of children who are fecally incontinent are so from improper operation or failure to recognize a surgically correctable problem. Over the past five years, we have managed ten children who had operations for anorectal problems and two with anterior anus. Seven were seen after poorly positioned pull-through procedures for imperforate anus and had anal repositioning, four successfully. Gracilis sling was successful in two of the other three. In two children overflow after a Duhamel operation for Hirschsprung's disease was corrected by division of a persistent anorectal septum. The third child with a disrupted Duhamel procedure was cured by anolevatorplasty. In two children an anterior ectopic anus was made continent by posterior anoplasty. Primary and secondary deviations from proper anatomy of the anorectal region will result in incontinence, which may be recognized by physical examination and defecograms. Proper operation usually produces acceptable continence.

Adolescent↗

PubMed2000

New mouse models of congenital anorectal malformations.

BACKGROUND/PURPOSE: The genetic, embryological, and pathogenetic aspects of hindgut development remain poorly understood. Recently, the morphogenetic pathway involving the Sonic hedgehog (Shh) gene has been shown essential to the normal development of many midaxial organs, including the foregut. This study reports genetically based murine models of congenital anorectal malformations (CAM) involving the Shh-responsive transcription factors, Gli2 and Gli3. Its purpose is to show the necessity of these 2 factors to normal hindgut development. METHODS: Gli2-/- mutants were generated by a targeted deletion. Gli3-/- mutants are spontaneous mutants involving the Gli3 gene. Gli2-/- Gli3+/- mutants were generated by intercrossing double heterozygotes. Whole-mount midsagittal sections of the embryos were analyzed on embryonic days (E) 11.5 and E13.5. RESULTS: Gli3-/- mutants had anal stenosis and ectopic anus, and Gli2-/- mutants showed imperforate anus and rectourethral fistula. Gli2-/- Gli3+/- mutants had a cloacal abnormality. CONCLUSIONS: The phenotypic abnormalities observed in these mutant mice are identical to the spectrum of human CAM. The severity of the phenotype appears to reflect the gene dose. Gli2 and Gli3 play an important role in the normal development of murine hindgut. The results of this study provide, for the first time, a molecular basis for CAM.

Anal Canal↗

PubMedDate not supplied

Atresia ani in the dog: a retrospective study.

Congenital anomalies of the rectum and anus are rare in dogs. The most frequently reported anomaly is atresia ani. Four types of atresia ani have been reported, including congenital anal stenosis (Type I); imperforate anus alone (Type II) or combined with more cranial termination of the rectum as a blind pouch (Type III); and discontinuity of the proximal rectum with normal anal and terminal rectal development (Type IV). An increased incidence was found in females and in several breeds, including miniature or toy poodles and Boston terriers. Surgical repair is the treatment of choice, but postoperative complications can occur, including fecal incontinence and colonic atony secondary to prolonged preoperative distension.

Anal Canal↗

PubMedDate not supplied

Associated congenital anomalies: vestibular fistula, duodenal atresia and obstructive refluxing megaureter.

Congenital gastrointestinal anomalies include spectrum of malformations, simple ones as well as complex, which are associated with anomalies of other organs and systems of organs. Most infants (50-60%) with imperlbrate anus also have genitourinary, cardiovascular, gastrointestinal and vertebral anomalies. This case report is of a female newborn with prenatally diagnosed duodenal atresia and right hydronephrosis. Clinical investigation revealed an imperforate anus with vestibular fistula. A plain abdominal X-ray showed a "double-bubble" sign, characteristic for duodenal atresia. Intraluminal membrane was excised and sigmoid colostomy was performed in general anesthesia on the first day of life. Ultrasound and intravenous pyelography confirmed a hydronephrotic right kidney and obstructive megaureter after Pena. In the fifth month of life, the ureter was tapered and reimplanted. Six months later, posterior sagittal anorectoplasty was performed. In the seventeenth month of life the colostomy was closed This child attained normal growth and development, normal bowel control, fecal continence without soiling, obstipation and urinary infections.

Abnormalities, Multiple↗

PubMed1992

Congenital urethral fistula with normal anus: a report of two cases.

Congenital rectourethral or anourethral fistulae without imperforate anus in males are rare, representing less than 1% of anorectal malformations. We report our experience with two males with "N type" urethral fistulae. One, a 5-year-old boy, presented with recurrent urinary tract infections (UTIs) and passage of urine per anus. Investigations included a voiding cystourethrogram (VCUG), which demonstrated a fistula from the urethra to the anus. On physical examination, a small perianal opening was noted just outside the anus, which drained a small amount of urine after voiding. The fistula was excised via a perineal approach. The second patient is a 5-year-old boy with a long history of recurrent UTI requiring multiple hospitalizations since the newborn period. Chronic renal failure developed as a complication of repeated urinary tract infections. Investigations showed a single hydronephrotic pelvic kidney and a small bladder. He underwent numerous diagnostic and reconstructive procedures including cystoscopy and augmentation cystoplasty. Recurrent infections continued and an N type anourethral fistula was eventually diagnosed. The fistula was located between the anal canal and the membranous urethra. An anterior perineal approach was also used. Both fistulae were easily located, and reconstructive surgery of the urethra was not required. Postoperative VCUGs in both patients were normal. They have been free of infection with normal urinary continence since resection of the fistula. Congenital N type anourethral fistulae are rare, but should be considered in cases of recurrent urinary tract infections. The diagnosis may be missed by endoscopic procedures, but VCUG should demonstrate the fistulous tract.

Child, Preschool↗

PubMed1978

Constipation caused by anterior location of the anus and its surgical correction.

Slight anterior displacement of the anus is a common developmental abnormality that represents the mild end of the imperforate anus spectrum. This malformation is a common cause of constipation. This type of constipation can be cured by posterior anoplasty. An experience is described in 134 cases who were operated upon from 1960 through 1977.

Adolescent↗

PubMed1993

Sacral agenesis and caudal spinal cord malformations.

Thirty-three children and one adult with sacral agenesis (SA) were studied by computed tomographic myelography and/or magnetic resonance imaging and were monitored for a mean period of 4.7 years. Four children had the OEIS (concurrent omphalocele, cloacal exstrophy, imperforate anus, and spinal deformities) complex, and three others had VATER (vertebral abnormality, anal imperforation, tracheoesophageal fistula, and renal-radial anomalies) syndrome. All patients shared some of the characteristic features of SA, namely, a short, intergluteal cleft, flattened buttocks, narrow hips, distal leg atrophy, and talipes deformities. Neurologically, lumbosacral sensation was much better preserved than the motor functions, and urinary and bowel symptoms were universal. The level of the vertebral aplasia was correlated with the motor but not with the sensory level. The important neuroimaging findings of SA were as follows: 1) 12 patients (35%) had nonstenotic, tapered narrowing of the caudal bony canal, and 2 patients had hyperostosis indenting the caudal thecal sac; 2) 16 patients (47%) had nonstenotic, tapered narrowing and shortening of the dural sac, but 3 patients (9%) had true, symptomatic dural stenosis, in which the cauda equina was severely constricted by a pencil-sized caudal dural sac; 3) the coni could be divided into those ending above the L1 vertebral body (Group 1, 14 patients) and those ending below L1 (Group 2, 20 patients). Thirteen of 14 Group 1 coni were club or wedge-shaped, terminating abruptly at T11 or T12, as if the normal tip was missing. All 20 Group 2 coni were tethered: 13 were tethered by a thick filum; 2 were extremely elongated and had a terminal hydromyelia; 3 were terminal myelocystoceles; and 2 were tethered by a transitional lipoma. High blunt coni were highly correlated with high (severe) sacral malformations (sacrum ending at S1), but low-lying tethered coni were highly correlated with low sacral malformations (S2 or lower pieces present).(ABSTRACT TRUNCATED AT 400 WORDS)

Abnormalities, Multiple↗

PubMed1988

[Diagnosis of anterior perineal anus (APA)--significance of electromyographic evaluation of the external anal sphincter location].

APA is a common cause of constipation, and is the mild case of the imperforated anus. On diagnosing APA, anterior displacement of the anus and normal distribution of the external anal sphincter to the anus are essential. To determine the location of the anus in the perineum simple clinical technique was developed. In 61 normal cases, the result of measurement was almost same in each sex, but in 3 APA cases the location were anteriorly dislocated than normal cases. Distribution of the external anal sphincter was evaluated with electromyographic technique, and location map of the sphincter was made. In 3 APA cases, the anus was totally surrounded by the external anal sphincter, but in 17 ano-cutaneous fistula cases, the opening was anteriorly dislocated to the sphincter distribution map. As a conclusion, newly proposed simple clinical technique to determine anal location and electromyographic examination of the external and sphincter distribution are very useful in objective diagnosis of APA.

Anal Canal↗

PubMed1991

[Unilateral massive vesicoureteral reflux associated with congenital mechanical obstruction of lower urinary tract].

We reviewed 9 children with unilateral massive (III and IV, Dwoskin-Perlmutter) vesicoureteral reflux associated with congenital mechanical obstruction of the lower urinary tract. Four children with bilateral reflux with bilateral difference of severity more than 2 grades were also included. Obstruction was attributed to posterior urethral valve in 5, anterior urethral stricture in 3 and mega-urethra in 1. The chief complaints were febrile episodes and urinary infection, followed by voiding difficulty, bed wetting and/or urinary incontinence and voiding through anus. All 4 children with troubles other than posterior urethral valve had either anorectal anomaly or H-type rectourethral fistula without imperforate anus. Of the 9 children 8 had massive reflux on the left side. The majority of these left ureters with massive reflux were associated with ipsilateral severe renal hypofunction on scintigraphy. After prompt resolution of obstruction, the majority of these massive reflux did not disappear. Decompression appeared to salvage none of such kidneys. The orifice positions of such ureters were far cranio-lateral and the resected kidneys showed dysplasia or severe hypoplasia. The prognosis was generally excellent except one child with massive reflux on the right side who progressed to an end-stage renal disease. The embryogenesis of this "VURD syndrome" was discussed in its relation to the "bud theory" of renal hypo-dysplasia. It was showed that this syndrome was observable in obstructions other than the posterior urethral valve. Massive reflux appeared to serve as "pop-off" mechanism to buffer high pressure and to lead to preservation of better renal function. Reflux in children with congenital mechanical obstruction may be the result of 2 different mechanisms.(ABSTRACT TRUNCATED AT 250 WORDS)

Child↗