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Pediatric Surgery International

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01-09-2013 | Original Article

Coloboma and anorectal malformations: a rare association with important clinical implications

Authors: Giulia Brisighelli, Andrea Bischoff, Marc Levitt, Jennifer Hall, Elizabeth Monti, Alberto Peña

Published in: Pediatric Surgery International | Issue 9/2013

Abstract

Purpose

In a patient with an anorectal malformation (ARM), the presence of a coloboma is commonly associated with other serious anomalies.

Methods

Our database and the world literature were reviewed searching for associated defects in patients with ARM and coloboma.

Results

Of 2,482 ARMs in our database, 11 had coloboma (0.4 %): 2 were females. No specific associated type of ARM was identified. Six patients were developmentally delayed. Eight had a cardiac anomaly (3 had TAPVR, 2 VSD, 3 ASD), five required a cardiac operation. Five had a gastrointestinal anomaly (3 malrotation, 1 biliary and 1 duodenal atresia). Six had eye and seven had ear anomalies. Five had a genetic abnormality. In the literature, 71 patients with ARM and coloboma were found: 65 % were females. 24 % died prematurely. 74 % were developmentally delayed. 70 % had a cardiac malformation (35 % had TAPVR, 38 % required an operation). 57 % had gastrointestinal anomalies (31 % malrotation, 31 % biliary atresia, 17 % Hirschsprung disease). Eye and ear anomalies were present in 80 and 97 % of patients, respectively. 81 % had a genetic abnormality.

Conclusions

An ocular inspection in patients born with ARM is crucial. The finding of a coloboma should increase awareness to evaluate for a developmental, cardiologic or gastrointestinal anomaly.

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Title: Coloboma and anorectal malformations: a rare association with important clinical implications
Authors: Giulia Brisighelli
Andrea Bischoff
Marc Levitt
Jennifer Hall
Elizabeth Monti
Alberto Peña
Publication date: 01-09-2013
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Surgery International / Issue 9/2013
Print ISSN: 0179-0358
Electronic ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-013-3356-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Coloboma and anorectal malformations: a rare association with important clinical implications

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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