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Open Access 01-08-2010 | Review Article

Review of genetic factors in intestinal malrotation

Authors: Vicki Martin, Charles Shaw-Smith

Published in: Pediatric Surgery International | Issue 8/2010

Abstract

Intestinal malrotation is well covered in the surgical literature from the point of view of operative management, but few reviews to date have attempted to provide a comprehensive examination of the topic from the point of view of aetiology, in particular genetic aetiology. Following a brief overview of molecular embryology of midgut rotation, we present in this article instances of and case reports and case series of intestinal malrotation in which a genetic aetiology is likely. Autosomal dominant, autosomal recessive, X-linked and chromosomal forms of the disorder are represented. Most occur in syndromic form, that is to say, in association with other malformations. In many instances, recognition of a specific syndrome is possible, one of several examples discussed being the recently described association of intestinal malrotation with alveolar capillary dysplasia, due to mutations in the forkhead box transcription factor FOXF1. New advances in sequencing technology mean that the identification of the genes mutated in these disorders is more accessible than ever, and paediatric surgeons are encouraged to refer to their colleagues in clinical genetics where a genetic aetiology seems likely.

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Title: Review of genetic factors in intestinal malrotation
Authors: Vicki Martin
Charles Shaw-Smith
Publication date: 01-08-2010
Publisher: Springer-Verlag
Published in: Pediatric Surgery International / Issue 8/2010
Print ISSN: 0179-0358
Electronic ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-010-2622-5

At a glance: The STEP trials

Springer Medicine

Review of genetic factors in intestinal malrotation

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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