eMedicine Specialties > Pediatrics: Surgery > General Surgery

Cloacal Malformations

Marc A Levitt, MD, Assistant Professor of Surgery and Pediatrics, University of Cincinnati; Associate Director, Colorectal Center for Children, Department of Pediatric Surgery, Cincinnati Children's Hospital Medical Center
Alberto Pena, MD, Consulting Surgeon, Colorectal Center for Children, Department of Pediatric Surgery, Cincinnati Children's Hospital Medical Center

Updated: Jul 10, 2007

Introduction

A persistent cloaca is defined as a confluence of the rectum, vagina, and urethra into a single common channel. This defect has been considered one of the most formidable challenges in pediatric surgery. The goals of treatment include achieving bowel and urinary control, as well as normal sexual function. Cloacal anomalies occur in 1 per 20,000 live births. They occur exclusively in girls and comprise the most complex defect in the spectrum of anorectal malformations.

Diverse treatments for the management of persistent cloaca have been proposed in the past. The most common approach consisted of repairing the rectal component of the malformation without repairing the urogenital sinus or planning its repair in a second stage. A combined abdominal, perineal,- vaginal, and simultaneous rectal pull-through was also used. Some treatments were adequate for certain cloacae but not for others. The perineal approach to urogenital sinus repair may be useful in patients with low defects, but not in those with higher defects. Similarly, the abdominal approach is required for some anomalies but not for others. Traditional approaches were limited in their exposure and, thus, could not clearly define the complex anatomy of the defect, and the urinary sphincter and anorectal sphincter were matters of speculation.

History Of The Procedure

Hendren has published the most comprehensive and authoritative reports on the subject of cloacal malformation repair. His reports emphasize a global approach to the simultaneous repair of the entire anomaly. Hendren has described the posterior sagittal approach, which was used to repair an imperforate anus and was first performed in 1982.¹ It was ideally suited for the more complex repair of cloacae and led to the operation described as the posterior sagittal anorectovaginourethroplasty (PSARVUP). This new approach allows for direct exposure to the complex anatomy and the voluntary muscles of urinary and fecal continence.

Problem

Families and physicians dealing with a newborn baby girl who has a cloacal malformation have 3 main concerns: (1) urinary control, (2) bowel control, and (3) sexual function (menstruation, intercourse, obstetric issues).

Frequency

The literature reports that the incidence rate of cloacal malformations is approximately 1 per 20,000-25,000 live births. However, the literature often contains reports of rectovaginal fistula, which are most likely cloacal malformations in which the rectal problem was corrected but the urogenital sinus was not. Therefore, cloacal malformations are probably more common than previously thought.

Etiology

The etiology of persistent cloaca is unknown.

Presentation

Persistent cloaca is clinically diagnosed. The presence of a single perineal orifice provides clinical evidence of persistent cloaca. The external genitalia often appear small. Examination of the abdomen may reveal an abdominal mass, which likely represents a distended vagina (hydrocolpos) and is present in 50% of patients with persistent cloaca.

The goal of early management is to detect associated anomalies, achieve satisfactory diversion of the gastrointestinal tract, manage a distended vagina, and divert the urinary tract, when indicated. Postoperatively, if the patient does not gain weight and has frequent episodes of sepsis or urinary tract infections, the urinary tract probably has not totally drained. Diversion of the fecal stream with a colostomy placed in the descending colon and with a mucous fistula is recommended. The defunctionalized colon is used for the future rectal pull-through; thus, adequate length must be ensured when the colostomy location is chosen. Also, access to this distal colon is vital for radiologic evaluation. Total diversion of the fecal stream is necessary to prevent urinary infections; thus, the stomas must be separated to prevent spillage.

Unfortunately, a common error in diagnosis may occur during the perineal inspection. Upon examination, the physician may believe that the patient has imperforate anus with rectovaginal fistula. However, in actuality, the urinary tract, vagina, and rectum may all meet in a common channel, and the baby may have a persistent cloaca. This error could lead to incorrect treatment; the surgeon may repair only the rectum and leave a urogenital sinus.

In addition, failure to identify persistent cloaca may mean that associated urologic problems (some potentially life threatening) go unnoticed. In addition, the clinician must be able to identify imperforate anus with rectovestibular fistula (see Imperforate Anus), which has its own clinical implications. Correctly diagnosing persistent cloaca is vital because 90% of babies with this malformation have an associated urologic problem, and 50% have hydrocolpos. The urinary tract and the distended vagina may both need to be managed within the newborn period to avoid serious complications.

If the diagnosis of persistent cloaca is missed, an obstructive uropathy is frequently overlooked. The patient may then receive only a colostomy and may subsequently experience sepsis, acidosis, and, sometimes, death. The other implication of failure to identify a persistent cloaca involves repairing only the rectal component of the anomaly, leaving the patient with a persistent urogenital sinus.

The distended vagina is a common cause of an obstructed urinary tract with pressure on the trigone; therefore, once the vagina is decompressed, the urinary tract may no longer be obstructed. Approximately 50% of patients have a hydrocolpos, which may be a source of urinary tract obstruction. If the hydrocolpos is not drained during the newborn period, it can become infected and can lead to vaginal scarring.

Once the baby recovers from the colostomy, the main repair is planned. This procedure, called anorectovaginourethroplasty, simultaneously repairs the rectal, vaginal, and urethral anomalies. The repair can usually be performed using only the posterior sagittal approach. For more complex anomalies, an abdominal approach is added to mobilize a very high vagina or rectum.

Cloacal exstrophy is the most severe cloacal anomaly. It involves an anterior abdominal wall defect in which the 2 hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. Cloacal exstrophy occurs in 1 per 100,000 live births. Surgical treatment in the newborn period involves closing the omphalocele and the bladder, ensuring adequate urinary flow via vesicostomy, and rescuing as much colon as possible when creating a colostomy for fecal diversion. Management of this rare anomaly can be considered in a discussion of anterior abdominal wall defects. Significant urologic and anorectal issues are involved in sex assignment; surgical treatment and long-term follow-up are beyond the scope of this article.

Indications

As discussed in Imperforate Anus, certain anorectal anomalies can be repaired in the newborn period. When discussing cloaca, fecal diversion prior to definitive repair is clearly the safest approach; thus, the operations are performed in stages. The newborn fecal diversion (and urinary and vaginal diversion, if necessary) is performed first; definitive repair is then performed at a later date, followed by the final operation of colostomy closure.

Relevant Anatomy

Associated Malformations

• More than 80% of all patients with a cloaca experience an associated urogenital anomaly. Rich et al report the following percentages of people with anorectal defect who have associated urogenital anomaly:²
   
  • Cloaca - 81%
    
    
  • Rectovesical fistula - 52%
    
    
  • Rectoprostatic fistula - 40%
    
    
  • Rectovestibular fistula - 9%
    
    
  • Rectobulbar fistula - 4%
    
    
  • Rectoperineal fistula - 0%
  • All malformations - 48%
    
• All patients must be evaluated at birth for associated urologic problems; the most valuable screening test is abdominal and pelvic ultrasonography.
  
  
• Urologic evaluation, either by a pediatric surgeon experienced with pediatric urology or in consultation with a pediatric urologist, is necessary before proceeding with colostomy. This provides the surgeon the necessary information needed to address the urologic problem at the time of the colostomy. In addition, drainage of a distended vagina (hydrocolpos) may be required.

Tethered cord

• A tethered spinal cord refers to the intravertebral fixation of the phylum terminale.
  
  
• Tethered cord has a known association with anorectal malformations and is particularly common in patients with persistent cloaca (approximately 40% of patients).
  
  
• Motor and sensory disturbances of the lower extremities may result.
  
  
• Patients with anorectal malformations and tethered cord have a worse functional prognosis regarding bowel and urinary function. However, they also have higher anorectal defects, less-developed sacra, associated spinal problems, and less-developed perineal musculature; thus, the actual impact of tethered cord alone on the functional prognosis is unclear.
  
  
• Untethering of the cord to avoid motor and sensory problems is indicated in the neurosurgical literature. No definitive evidence suggests that this operation affects the functional prognosis of a patient with anorectal malformation. Some evidence in the urologic literature indicates that this operation may improve urodynamics.
  
  
• Anomalies of the sacrum, particularly hypodevelopment, sacral hemivertebrae, and hemisacra, are associated with tethered cord and most likely comprise the spectrum of caudal regression, of which spinal anomalies are a part.
  
  
• Spinal ultrasonography in the first 3 months of life and MRI thereafter are useful in diagnosis.

Sacrum and spine anomalies

• The sacrum is the most frequently affected bony structure.
  
  
• Traditionally, to evaluate the degree of sacral deficiency, the number of sacral vertebral bodies was counted. A more objective assessment of the sacrum can be obtained by calculating a sacral ratio. The sacrum is measured, and its length is compared with bony parameters of the pelvis (see Image 15). The distance from the coccyx to the sacroiliac joint divided by the distance from the sacroiliac joint to the top of the pelvis calculates the sacral ratio. Lateral radiography is more accurate than the anteroposterior view because its calculation is not affected by the tilt of the pelvis.
  
  
• The assessment of the hypodevelopment of the sacrum correlates with the patient's functional prognosis. Normal sacra have a ratio of 0.77. Bowel control has never been observed in patients with ratios less than 0.3.
  
  
• A hemisacrum is always associated with a presacral mass, commonly dermoids, teratomas, or anterior meningoceles. The Currarino triad, which includes imperforate anus, a hemisacrum, and a presacral mass, has been described.
  
  
• Hemivertebrae may also affect the lumbar and thoracic spine, leading to scoliosis.
  
  
• Patients may have spinal anomalies other than tethered cord, such as syringomyelia and myelomeningocele.

Contraindications

Patients with cloaca have no contraindications to definitive surgery when future fecal or urinary incontinence is a concern. Even for patients with incontinence, a bowel management program (see Bowel Management) is almost always successful in keeping a patient clean and dry. In patients in whom bowel management is unsuccessful (<3%), a colostomy may be the best option to ensure good quality of life. In patients with urinary incontinence, many options are available for keeping clean. Urinary diversions, such as the Mitrofanoff procedure and the use of intermittent catheterization, are usually successful in keeping the patient dry of urine.

Workup

Laboratory Studies

• Patients with an untreated obstructive uropathy may have acidosis.

Imaging Studies

• Newborn period
  
  
  • The radiologic evaluation of a newborn with persistent cloaca includes abdominal ultrasonography to evaluate for urologic anomalies and a distended vagina (hydrocolpos).
  • Plain radiography of the spine can show spinal anomalies, such as spina bifida and spinal hemivertebrae.
  • Plain radiography of the sacrum in the anterior-posterior and lateral projections can reveal sacral anomalies, such as a hemisacrum and sacral hemivertebrae. Also, the degree of sacral hypodevelopment can be assessed, and a sacral ratio can be calculated by measuring the distances between key bony structures (see Image 15).
  • Spinal ultrasonography in patients younger than 3 months can be performed to evaluate for evidence of a tethered spinal cord and other spinal anomalies. In patients older than 3 months, the radiologist cannot visualize this area with ultrasonography because ossification of the sacrum has occurred, closing the window for ultrasonographic visualization.
• After the newborn period
  
  
  • After the colostomy has been created, outpatient radiologic evaluation of the cloaca involves injection of hydrosoluble contrast in all possible orifices in order to determine the anatomy. Injection of the perineal orifice, distal colostomy, the cystostomy tube, and the vaginostomy tube, if present,  may all contribute to defining the anatomy. A colostomy with a mucous fistula is essential because the anatomy can be radiologically investigated through the distal stoma.
  • MRI is necessary in infants older than 3 months to evaluate for the presence of tethered cord and other spinal anomalies if ultrasonography was not performed in the neonatal period.

Other Tests

• Cystoscopy and vaginoscopy are essential components for evaluation of the patient with persistent cloaca. Many surgeons choose to perform endoscopy before the main repair so that the anatomy can be defined and the complex surgery can be planned. With the information obtained from the endoscopy, the surgeon can usually predict whether a laparotomy will be required in combination with the perineal approach. Insight into the extent of vaginal reconstruction needed can also be ascertained. The anatomic questions that can be ascertained include the following:
  
  
  • The length of the common channel
  • The presence of a vagina
  • The presence of hemivagina
  • The presence of a cervix (or cervices)

Treatment

Medical Therapy

Many patients require antimicrobial prophylaxis for urinary tract infections for associated vesicoureteral reflux.

Surgical Therapy

• Cloacae represent a wide spectrum of defects. Repairing the defects involves dissection of the fused rectum, vagina, and urethra, which have formed a common channel (see Image 9). This dissection allows their separation and proper placement on the perineum. The length of the common channel can range from 1-10 cm.
  
  
• The rectum and vagina share a common wall, and the vagina and urinary tract likewise have a common wall (see Image 8).
  
  
• The goals of surgical treatment are to achieve bowel control, urinary control, and normal sexual function. Although all 3 goals are sometimes achieved, occasionally, none, 1, or 2 of the goals are achieved. Prognostic factors include quality of the sacrum, quality of the muscles, and length of the common channel.
  
  
• Two groups of patients have been arbitrarily defined. Repair in patients with a common channel shorter than 3 cm is reproducible and feasible for most pediatric surgeons. In patients with a common channel longer than 3 cm, the repair should be performed at a specialized center by a surgeon experienced in managing urologic anomalies who is able to perform complex vaginal reconstructions. If the common channel is shorter than 3 cm, the posterior sagittal approach can be used to repair the defect without an abdominal approach. First, the rectum is mobilized. The vagina and urinary tract are then mobilized together (total urogenital mobilization), with the goal that both of these structures reach the perineum.
  
  
• For patients with a common channel longer than 3 cm, a laparotomy is usually required. Often, the vagina and urinary tract must be separated to gain length, and the urethra must then be reconstructed. The surgeon must be prepared to open the bladder and to reimplant the ureters, if necessary. Complex vaginal mobilizations are often required, and vaginal replacement with small intestine or colon is frequently necessary. The complexities involved with these types of cloacal repair are beyond the scope of this article.
  
  
• Total urogenital mobilization is a technique devised by the senior author; it allows mobilization of the urethra and vagina as one structure. This is possible in patients with the more benign types of cloacae. If total urogenital mobilization does adequately lengthen the vagina, the vagina and urethra must be separated, which is a technically challenging maneuver. Vaginourethral fistulae are more likely after this plane is dissected, which is why total urogenital mobilization significantly improves the patient's functional outcome.
  
  
• The pull-through of the rectum is similar to that performed in other anorectal malformations. As with repair of imperforate anus, the rectum is placed within the limits of the sphincter mechanism, which is determined with an electrical stimulator.
  
  
• The main surgical challenge involves the repair of the vagina, the urethra, and the associated urologic defects.
  
  
• A large vagina can be an advantage during the definitive repair because the surgeon can more easily mobilize it and has more alternatives for vaginal repair. If the vagina required decompression in the newborn period, the pull-through may be tethered to the abdominal wall during a vaginostomy and must be taken down at the time of the definitive repair.
  
  
• Approximately 50% of patients have various degrees of vaginal or uterine septation. These can be totally or partially repaired during the main operation or deferred for definitive repair until puberty. The precise gynecologic anatomy must be ascertained during either the main repair or the colostomy closure (if a laparotomy was not required during the main repair). Approximately one third of the author's patients have obstructed Müllerian structures, which can lead to severe problems due to retrograde menstruation.
  
  
• Future problems, such as amenorrhea in patients with atretic uteri, hydrometrocolpos, and retrograde menses, can be predicted in the newborn period. Presentations of pelvic pain or amenorrhea in teenagers should prompt the suspicion of anomalous gynecologic structures (see Image 3 and Images 12-14). An ongoing collaborative relationship with a gynecologist is vital to address these issues, including fertility and safety of childbirth options.

Intraoperative Details

See Surgical therapy.

Postoperative Details

• The Foley catheter remains in place for approximately 14 days (occasionally longer). The catheter should remain in place if the perineum appears swollen and the urethral orifice is not visible.
  
  
• In patients with complex persistent cloaca, a suprapubic cystostomy tube may be kept in place for longer-term urinary diversion.
  
  
• If the colostomy is untouched during the operation and no laparotomy was necessary, oral feedings may be started immediately postoperatively. If a laparotomy was necessary, the patient may require a period of fasting and nasogastric decompression.
  
  
• Anal calibration is performed 2 weeks after the operation, followed by a program of anal dilatations. The anus must be dilated twice daily, and the size of the dilator is increased every week. The final size to be reached depends on the age of the patient.
  
  
• Once the desired size is reached, the colostomy can be closed. Cystoscopy and vaginoscopy should be performed before colostomy closure to ensure that no urethrovaginal fistula is present, which would necessitate a repeat procedure.
  
  
• Dilatations are continued afterward according to a prescribed protocol. They are a vital part of the postoperative management to avoid a stricture at the anoplasty site.

Follow-up

For excellent patient education resources, visit eMedicine's Kidneys and Urinary System Center. Also, see eMedicine's patient education article Bladder Control Problems.

Complications

If the persistent cloaca is not correctly identified, an obstructive uropathy is frequently overlooked. The patient may then receive only a colostomy and may subsequently experience sepsis, acidosis, and, sometimes, death. The other implication of failure to identify a persistent cloaca involves repairing only the rectal component of the anomaly, leaving the patient with a persistent urogenital sinus.

The main operative complication of concern is the development of urethrovaginal fistulae, which requires a reoperation. Therefore,  endoscopy must be performed prior to colostomy closure to ensure that no fistula has developed.

Outcome and Prognosis

• Functional prognosis with regard to achieving fecal continence depends on the complexity of the defect and the status of the spine and sacrum.
• Fecal continence is more likely in patients with a benign cloaca and in those who have a normal sacrum. Approximately 70% of patients can achieve voluntary movements (for comparison with patients with other anorectal anomalies, see Imperforate Anus).
• Postoperative monitoring of bowel function is similar to that in patients with imperforate anus (see Imperforate Anus: Surgical Perspective).
• Urinary control varies based on the length of the common channel (see Image 11). Intermittent catheterization is required in 69% of patients with persistent cloaca who have a common channel longer than 3 cm, compared with 20% in the group with a common channel shorter than 3 cm.
• In most patients, the bladder neck is competent, and the patients who require catheterization remain dry between micturitions. If catheterization is not performed, overflow incontinence occurs. Occasionally, the bladder neck is not competent or is nonexistent; in these patients, consider urinary diversion, such as a Mitrofanoff procedure.

Future and Controversies

Future concerns involved with cloacal repair involve determining long-term gynecologic issues. Sexual function and obstetric capacity are still not well understood; however, in the coming years, as more patients reach childbearing age, this is an issue pediatric surgeons will face.

Multimedia

Media file 1: Newborn with persistent cloaca and massive hydrocolpos.

Media file 2: Ultrasonogram showing hydronephrosis before and after drainage of the hydrocolpos, which was compressing the trigone of the bladder.

Media file 3: Hysterosalpingogram in a baby who has persistent cloaca with symmetric hemiuteri.

Media file 4: Perineum of a baby with persistent cloaca.

Media file 5: Perineum of a baby with persistent cloaca.

Media file 6: Perineum of a baby with persistent cloaca. Note the single perineal orifice.

Media file 7: Perineum of a baby with persistent cloaca showing the more common finding of small external genitalia.

Media file 8: Artist's drawing of persistent cloaca, a lateral view.

Media file 9: Posterior sagittal approach to repair a cloacal malformation, showing rectum, vagina, and urethra.

Media file 10: Total urogenital mobilization during repair of a persistent cloaca.

Media file 11: Repair of persistent cloaca with a 4-cm common channel.

Media file 12: MRI of a teenage girl born with persistent cloaca, with pelvic masses caused by metrocolpos and metrometra.

Media file 13: Artist's drawing of retrograde menstruation due to an atretic hemicervix in a patient with persistent cloaca and hemiuteri.

Media file 14: Artist's view of a laparotomy in a patient with menstrual blood–filled anomalous Müllerian structures.

Media file 15: Calculation of the sacral ratio.

References

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Keywords

cloacal malformations, anorectal malformations, cloaca, cloacal anomalies, persistent cloaca, confluence of the rectum, confluence of the urethra, confluence of the vagina, urogenital sinus, posterior sagittal approach, posterior sagittal anorectovaginourethroplasty, PSARVUP, urinary continence, fecal continence, rectovaginal fistula, hydrocolpos, imperforate anus, vaginal scarring, cloacal exstrophy, midline intestinal plate, omphalocele, vesicostomy, genitourinary defects, rectovesical fistula, rectovestibular fistula, rectobulbar fistula, rectoperineal fistula, tethered cord, tethered spinal cord, presacral mass, dermoids, teratomas, anterior meningoceles, Currarino triad, hemisacrum, Mitrofanoff procedure, acidosis, spina bifida, spinal hemivertebrae

Contributor Information and Disclosures

Author

Marc A Levitt, MD, Assistant Professor of Surgery and Pediatrics, University of Cincinnati; Associate Director, Colorectal Center for Children, Department of Pediatric Surgery, Cincinnati Children's Hospital Medical Center
Marc A Levitt, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Surgeons, and Society of American Gastrointestinal and Endoscopic Surgeons
Disclosure: Nothing to disclose.

Coauthor(s)

Alberto Pena, MD, Consulting Surgeon, Colorectal Center for Children, Department of Pediatric Surgery, Cincinnati Children's Hospital Medical Center
Disclosure: Nothing to disclose.

Medical Editor

Aviva L Katz, MD, Assistant Professor of Surgery, University of Pittsburgh School of Medicine; Consulting Staff, Division of General and Thoracic Surgery, Children's Hospital of Pittsburgh
Aviva L Katz, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, Association of Women Surgeons, Physicians for Social Responsibility, and Wilderness Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Gail E Besner, MD, Professor of Surgery and Pediatrics, Department of Surgery, Ohio State University College of Medicine and Public Health; Director, Pediatric Surgical Research, Department of Surgery, Children's Hospital
Gail E Besner, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Burn Association, American College of Surgeons, American Gastroenterological Association, American Medical Association, American Medical Women's Association, American Pediatric Surgical Association, Association for Academic Surgery, Federation of American Societies for Experimental Biology, Society of Critical Care Medicine, Society of Surgical Oncology, and Society of University Surgeons
Disclosure: Nothing to disclose.

CME Editor

H Biemann Othersen Jr, MD, Professor of Surgery and Pediatrics, Emeritus Head, Division of Pediatric Surgery, Medical University of South Carolina
H Biemann Othersen Jr, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association for the Surgery of Trauma, American Burn Association, American Cancer Society, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, American Society for Parenteral and Enteral Nutrition, American Surgical Association, American Thoracic Society, British Association of Paediatric Surgeons, Pediatric Oncology Group, Society for Surgery of the Alimentary Tract, Society of Critical Care Medicine, South Carolina Medical Association, Southeastern Surgical Congress, Southern Medical Association, Southern Society for Pediatric Research, and Southern Thoracic Surgical Association
Disclosure: Nothing to disclose.

Chief Editor

Marleta Reynolds, MD, Professor of Surgery, Feinberg School of Medicine, Northwestern University; Interim Head, Division of Pediatric Surgery, Department of Surgery, Children's Memorial Hospital of Chicago
Marleta Reynolds, MD is a member of the following medical societies: American Pediatric Surgical Association
Disclosure: Nothing to disclose.

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