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PubMedDate not supplied

[Imperforate anus. Principles and methods of surgical treatment].

Imperforate anal surgery is not only concerned with survival but also with the problem of incontinence. The ideal long term result must be fecal continence without constipation or fecal soiling. As a result of embryological studies new anatomical and physiological concepts form the basis of our present knowledge concerning diagnosis and surgical approach. A new classification of anorectal anomalies evolved in 1970. It is based on the anatomy of the visceral deformities in relation to the principal muscle of continence, the puborectalis part of the levator ani muscle. The primary divisions are those of the high rectal lesions above the levator muscle (supralevator), and those of the low anal lesions through the levator (translevator). The translevator type will be corrected through a perineal approach. The prognosis is excellent. The supralevator type needs a combined abdominoperineal operation. The continence prognosis of this type still raises problems. Only a good knowledge of these basic concepts and a careful dissection of every sphincteric muscle will ameliorate our results.

Anus, Imperforate↗
PubMed1997

Accessory scrotum with imperforate anus

Accessory scrotum is the rarest anomaly of the scrotum; less than two dozen cases have been reported. A case of accessory scrotum with imperforate anus is reported.

Journal Article↗
PubMed1979

[Incontinence after repair of imperforate anus : treatment by a free muscle transplant (author's transl)].

A case of severe anal incontinence after multiple surgical repairs for ano-rectal imperforation is presented. A successful formation of a new puborectalis sling by means of free autogenous palmaris longus muscle transplantation according to Hakeliuis is reported. The clinical success is confirmed radiologically and electromyographically. The authors discussed the principles and the results of this new method. They believe that this case pleads in favour of true muscle autotransplant re-innervation.

Anus, Imperforate↗
PubMed1997

A report of 27 cases of congenital short colon with an imperforate anus: so-called 'pouch colon syndrome'.

This is a retrospective study of 27 cases of congenital short colon with anorectal malformation (pouch colon syndrome) treated during the last 5 years (from January 1991 to December 1995). The radiological feature of enormously dilated colonic pouch occupying more than half the width of abdomen was diagnostic in almost all cases. Excision of pouch and end enterostomy was associated with maximum survival (92.3%) in good risk patients. Proximal diverting enterostomy with decompression and irrigation of pouch is a preferable alternative to pouch colostomy in poor risk patients. Tapering coloplasty and colostomy should be reserved only for types I and II cases of pouch colon.

Abnormalities, Multiple↗
PubMed2001

Anorectal malformations caused by defects in sonic hedgehog signaling.

Anorectal malformations are a common clinical problem affecting the development of the distal hindgut in infants. The spectrum of anorectal malformations ranges from the mildly stenotic anus to imperforate anus with a fistula between the urinary and intestinal tracts to the most severe form, persistent cloaca. The etiology, embryology, and pathogenesis of anorectal malformations are poorly understood and controversial. Sonic hedgehog (Shh) is an endoderm-derived signaling molecule that induces mesodermal gene expression in the chick hindgut. However, the role of Shh signaling in mammalian hindgut development is unknown. Here, we show that mutant mice with various defects in the Shh signaling pathway exhibit a spectrum of distal hindgut defects mimicking human anorectal malformations. Shh null-mutant mice display persistent cloaca. Mutant mice lacking Gli2 or Gli3, two zinc finger transcription factors involved in Shh signaling, respectively, exhibit imperforate anus with recto-urethral fistula and anal stenosis. Furthermore, persistent cloaca is also observed in Gli2(-/-);Gli3(+/-), Gli2(+/-);Gli3(-/-), and Gli2(-/-);Gli3(-/-) mice demonstrating a gene dose-dependent effect. Therefore, Shh signaling is essential for normal development of the distal hindgut in mice and mutations affecting Shh signaling produce a spectrum of anorectal malformations that may reveal new insights into their human disease equivalents.

Anal Canal↗
PubMed1992

The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs.

The OEIS complex comprises a combination of defects including omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. It may represent the most severe manifestation of a spectrum of birth defects, the exstrophy-epispadias sequence. The OEIS complex affects 1 in 200,000 to 400,000 pregnancies and is of unknown cause. The purpose of the current report is to document the occurrence of OEIS in sibs from separate pregnancies and suggest that some cases may have a genetic basis.

Abnormalities, Multiple↗
PubMedDate not supplied

Omphalocoele-exstrophy-imperforate anus-spinal defects complex in dizygotic twins.

OEIS complex refers to a combination of defects consisting of omphalocoele, exstrophy of the cloaca, imperforate anus, and spinal defects. The incidence of the OEIS complex is very rare, estimated to occur in 1 of 200,000-400,000 pregnancies. The aetiology of the OEIS complex is still unclear, single defects in blastogenesis and mutations in homeobox genes, such as HLXB9, have been suggested to be responsible for the development of the OEIS complex. Moreover, higher incidence of OEIS in monozygotic twins suggests a possible genetic contribution to the occurrence of this multisystem defect. We here report the peculiar case of OEIS complex in a dizygotic twin pregnancy. Prenatal diagnosis of OEIS by ultrasound examination is possible but difficult. Sonographic detection of an omphalocoele in the presence of an open neural tube defect should prompt a search of OEIS-associated defects. Accurate prenatal diagnosis by ultrasound and/or diagnosis of the OEIS complex at autopsy are important for detailed counselling of the parents and perinatal management.

Abnormalities, Multiple↗
PubMed2001

OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): a review of 14 cases.

OEIS complex refers to a combination of defects consisting of omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. Possible embryologic mechanisms proposed for these findings have included: a single defect of early blastogenesis or a defect of mesodermal migration during the primitive streak period. Fourteen cases with OEIS complex and related malformations were reviewed for demographic features, prenatal and family histories, and clinical, radiological and pathological findings including the frequency and types of associated anomalies. The pathogenetic mechanisms causing OEIS complex and related malformations, such as anorectal and spinal defects, are discussed. The findings in these cases illustrate the spectrum of defects that can occur in the embryologic development of the cloaca and the urorectal septum. Differences in the timing and extent of mesenchymal ingrowth as well as cloacal membrane rupture may account for these variable findings. A developmental field defect involving the intraembryonic mesoderm suggests a possible etiologic role for homeobox genes, such as HLXB9 with mutations, resulting in anorectal and spine abnormalities, or retinoic acid receptors. OEIS complex with its mostly sporadic occurrence suggests etiologic heterogeneity with a possible role for environmental and genetic causes.

Abnormalities, Multiple↗
PubMed1997

Perinatal features of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS complex) associated with large meningomyeloceles and severe limb defects.

Omphalocele-Exstrophy-Imperforate anus-Spinal defects (OEIS complex), a combination of omphalocele, exstrophy of the bladder, an imperforate anus and spinal defects, arises from a single localized defect in the early development of the mesoderm that will later contribute to infraumbilical mesenchyme, cloacal septum, and caudal vertebrae. In this report, we document the perinatal features of two cases of OEIS complex associated with meningomyeloceles and severe lower limb defects, and discuss the prenatal diagnosis, inheritance, and differential diagnosis of this association of malformations. Although long-term survival can be achieved by successful corrective surgery, the associated structural defects such as large meningomyelocele and severe limb aplasia or hypoplasia, as seen in our patient, can influence the patient's quality of life. We would like to emphasize that an accurate prenatal diagnosis of OEIS complex and associated malformations is important for the detailed counseling of the family as well as appropriate perinatal management by the obstetricians, pediatric surgeons, urologists, neurosurgeons, and neonatologists.

Abnormalities, Multiple↗
PubMed1999

OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins.

The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a consistent and recognizable pattern of midline abdominal and pelvic defects. It is rare, affecting 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestations. This is an autopsy study of OEIS complex in monozygotic twins after pregnancy termination at 20 weeks of gestation. Unremarkable family history but concordance of monozygotic twins for the defects may support the theory that early malformation complexes, e.g., OEIS, and monozygotic twinning are manifestations of the same disturbance of early blastogenesis.

Abnormalities, Multiple↗
PubMed2003

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS.

BACKGROUND: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare sporadic condition. CASE: We identified an infant with major malformations resembling OEIS. He was the product of a 30-week triplet pregnancy conceived by in vitro fertilization (IVF) and evaluated by chorionic villi sampling (CVS). In this article, we review the possible pathogenetic mechanisms in this case, including IVF, multiple gestation, trauma to the uterus or uterine vessels following CVS, and placenta accreta. CONCLUSIONS: We conclude that the cumulative effects of all or some of these factors may have resulted in uteroplacental insufficiency adequate to produce this phenotype. This case provides additional evidence for the uterine vascular pathogenesis of OEIS complex in humans.

Abnormalities, Multiple↗