Considering the Embryopathogenesis of VACTERL Association

The nonrandom co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, recognized as the VACTERL association, has not been satisfactorily explained from either a causation or embryopathogenesis standpoint. Few familial cases have been identified and m...

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Published inMolecular syndromology Vol. 4; no. 1-2; pp. 7 - 15
Main Authors Stevenson, R.E., Hunter, A.G.W.
Format Journal Article
LanguageEnglish
Published Basel, Switzerland S. Karger AG 01.02.2013
Subjects
Malformations
Embryopathogenesis
Genetics
Embryology
Environmental influences
VACTERL association
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Summary:The nonrandom co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, recognized as the VACTERL association, has not been satisfactorily explained from either a causation or embryopathogenesis standpoint. Few familial cases have been identified and maternal diabetes is the only environmental influence implicated to date. Mutations in single genes have been found in a number of syndromes with one or more of the VACTERL malformations, but these syndromes usually have other features which distinguish them from the VACTERL association. Animal models have provided clues to molecular pathways that may be involved in the embryogenesis of the VACTERL structures. What is lacking is the systematic study of individual genes and pathways in well-composed cohorts of patients, which is now possible with high throughput molecular technologies.
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ISBN:9783318023497
3318023493
ISSN:1661-8769
1661-8777
DOI:10.1159/000346192