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Pediatr Surg Int. 2013 Sep;29(9):905-12. doi: 10.1007/s00383-013-3356-y.

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

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1
Colorectal Center for Children, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, ML 2023, Cincinnati, OH 45229, USA.

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.

PMID:
23907175
DOI:
10.1007/s00383-013-3356-y
[Indexed for MEDLINE]
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