Related Experiment Videos
Isolated imperforate anus in monozygotic twins: case report and implications
Rainer Kubiak1, Vipul Upadhyay
1Department of Paediatric Surgery, University Children's Hospital Basel, CH-4005 Basel, Switzerland. rainerkubiak@hotmail.com
Journal of Pediatric Surgery
|March 29, 2005
Summary
This study details a rare case of imperforate anus in identical twins, confirming a higher incidence of low anorectal malformations in such pairs. Further research into the genetic factors of these anomalies is suggested.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- Anorectal malformations (ARMs) are congenital defects affecting the anus and rectum.
- Isolated anorectal malformations, particularly imperforate anus with perineal fistula, are rare.
- Monozygotic (identical) twins present a unique model for studying genetic influences on congenital anomalies.
Observation:
- A case of isolated imperforate anus with a perineal fistula in monozygotic twins is presented.
- This represents the fifth documented instance of concordant isolated anorectal malformation in monozygotic twins.
- In all reported cases, the anorectal defect was located below the levator ani muscle.
Findings:
- The occurrence of isolated low anorectal anomalies in monozygotic twins is confirmed by this case.
- The literature review indicates that low anorectal anomalies and more severe malformations may have distinct genetic underpinnings.
- This case adds to the understanding of the genetic etiology of anorectal malformations in twins.
Implications:
- Further investigation into the specific genetic factors contributing to low anorectal malformations in monozygotic twins is warranted.
- Understanding these genetic backgrounds can aid in genetic counseling and risk assessment for families.
- This research contributes to the broader knowledge of congenital malformations and their genetic basis.