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

Document Type

Journal Article

Publication Date

9-1-2013

Journal

Pediatric Surgery International

Volume

29

Issue

9

DOI

10.1007/s00383-013-3356-y

Keywords

Anorectal malformation; Cardiac anomalies; Coloboma; Developmental delay; Imperforate anus; Ocular anomalies

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. © 2013 Springer-Verlag Berlin Heidelberg.

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