Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Additional congenital defects in anorectal malformations

E A Hassink1, P N Rieu, B C Hamel

  • 1Department of Pediatric Surgery, University Hospital Nijmegen, The Netherlands.

European Journal of Pediatrics
|June 1, 1996
PubMed
Summary

Anorectal malformation (ARM) often occurs with additional congenital defects (ACDs), frequently forming associations like VACTERL. These defects affect males and females equally but present differently.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

PRKN-related familial Parkinson's disease: First molecular confirmation from East Africa.

Parkinsonism & related disorders·2020
Same author

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.

Case reports in genetics·2020
Same author

First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features<sup>.</sup>

Neuromuscular disorders : NMD·2019
Same author

Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.

Case reports in genetics·2017
Same author

Hemangioma and vascular malformations : Editorial.

Pediatric surgery international·2013
Same author

Vascular malformations: a review of 10 years' management in a university hospital.

Pediatric surgery international·2013

Area of Science:

  • Pediatric Surgery
  • Clinical Genetics
  • Developmental Biology

Background:

  • Anorectal malformation (ARM) is a congenital condition requiring comprehensive evaluation for associated anomalies.
  • Understanding the patterns of additional congenital defects (ACDs) in ARM patients is crucial for diagnosis and management.

Purpose of the Study:

  • To analyze the types and frequencies of additional congenital defects (ACDs) in patients with anorectal malformation (ARM).
  • To investigate the classification of ACDs in ARM patients into associations, syndromes, or sequences.

Main Methods:

  • Retrospective review of 264 patients with anorectal malformation (ARM) born between 1974 and 1995.
  • Systematic registration and classification of all additional congenital defects (ACDs).

Related Experiment Videos

Main Results:

  • 67% of ARM patients had one or more ACDs, most commonly affecting the uro-genital tract (43%) and skeleton (38%).
  • Associations were identified in 49% of patients, with the VACTERL association being the most frequent (44%).
  • Syndromes were recognized in 5% and sequences in 2% of patients; novel combinations like Trisomy 21 with ARM and Zellweger syndrome with ARM were noted.

Conclusions:

  • Most combinations of ARM and ACDs can be categorized as associations, syndromes, or sequences.
  • While ARM affects both sexes equally, the expression of associated defects may differ.
  • The proposed etiology for the OEIS complex may differ from other forms of ARM.