Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis
Background: Idiopathic congenital talipes equinovarus (CTEV) is a common developmental foot disorder, the aetiology of which remains largely unknown. Some aspects of the epidemiology suggest the possibility of aetiologically distinct subgroups. Previous studies consider CTEV as a homogenous entity w...
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ftunivdundeepure:oai:discovery.dundee.ac.uk:publications/a656c392-21b2-4e80-8d0b-9c3ab7d3e68b 2024-06-23T07:55:58+00:00 Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis Cardy, Amanda H. Sharp, Linda Torrance, Nicola Hennekam, Raoul C. Miedzybrodzka, Zosia 2011-04-20 https://discovery.dundee.ac.uk/en/publications/a656c392-21b2-4e80-8d0b-9c3ab7d3e68b https://doi.org/10.1371/journal.pone.0017895 eng eng https://discovery.dundee.ac.uk/en/publications/a656c392-21b2-4e80-8d0b-9c3ab7d3e68b info:eu-repo/semantics/restrictedAccess Cardy , A H , Sharp , L , Torrance , N , Hennekam , R C & Miedzybrodzka , Z 2011 , ' Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis ' , PLoS ONE , vol. 6 , no. 4 , e17895 , pp. - . https://doi.org/10.1371/journal.pone.0017895 article 2011 ftunivdundeepure https://doi.org/10.1371/journal.pone.0017895 2024-06-04T14:58:06Z Background: Idiopathic congenital talipes equinovarus (CTEV) is a common developmental foot disorder, the aetiology of which remains largely unknown. Some aspects of the epidemiology suggest the possibility of aetiologically distinct subgroups. Previous studies consider CTEV as a homogenous entity which may conceal risk factors in particular subgroups. We investigate evidence for aetiologically distinct subgroups of CTEV. Methods: Parents of 785 probands completed a postal questionnaire. Family pedigrees were compiled by telephone. Case-only analysis was used to investigate interactions between risk factors and sex of the proband, CTEV laterality and CTEV family history. Results: The male: female ratio was 2.3:1, 58% of probands were affected bilaterally and 11% had a first-second degree family history. There were modest interactions between family history and twin births (multivariate case - only odds ratio [ORca] = 3.87, 95%CI 1.19-12.62) and family history and maternal use of folic acid supplements in early pregnancy (ORca = 0.62, 95%CI 0.38-1.01); and between sex of the proband and maternal alcohol consumption during pregnancy (female, positive history and alcohol consumed: ORca = 0.33, 95%CI 0.12-0.89). Previous reports of an interaction between maternal smoking and family history were not confirmed. Relatives of female probands were affected more often than relatives of male probands. Conclusions: These results provide tentative evidence for aetiologically distinct CTEV subgroups. They support the 'Carter effect', suggesting CTEV develops though a multifactorial threshold model with females requiring a higher risk factor 'load', and suggest areas where future aetiological investigation might focus. Large multi-centre studies are needed to further advance understanding of this common condition. Article in Journal/Newspaper Orca Discovery - University of Dundee Online Publications PLoS ONE 6 4 e17895 |
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Discovery - University of Dundee Online Publications |
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ftunivdundeepure |
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English |
description |
Background: Idiopathic congenital talipes equinovarus (CTEV) is a common developmental foot disorder, the aetiology of which remains largely unknown. Some aspects of the epidemiology suggest the possibility of aetiologically distinct subgroups. Previous studies consider CTEV as a homogenous entity which may conceal risk factors in particular subgroups. We investigate evidence for aetiologically distinct subgroups of CTEV. Methods: Parents of 785 probands completed a postal questionnaire. Family pedigrees were compiled by telephone. Case-only analysis was used to investigate interactions between risk factors and sex of the proband, CTEV laterality and CTEV family history. Results: The male: female ratio was 2.3:1, 58% of probands were affected bilaterally and 11% had a first-second degree family history. There were modest interactions between family history and twin births (multivariate case - only odds ratio [ORca] = 3.87, 95%CI 1.19-12.62) and family history and maternal use of folic acid supplements in early pregnancy (ORca = 0.62, 95%CI 0.38-1.01); and between sex of the proband and maternal alcohol consumption during pregnancy (female, positive history and alcohol consumed: ORca = 0.33, 95%CI 0.12-0.89). Previous reports of an interaction between maternal smoking and family history were not confirmed. Relatives of female probands were affected more often than relatives of male probands. Conclusions: These results provide tentative evidence for aetiologically distinct CTEV subgroups. They support the 'Carter effect', suggesting CTEV develops though a multifactorial threshold model with females requiring a higher risk factor 'load', and suggest areas where future aetiological investigation might focus. Large multi-centre studies are needed to further advance understanding of this common condition. |
format |
Article in Journal/Newspaper |
author |
Cardy, Amanda H. Sharp, Linda Torrance, Nicola Hennekam, Raoul C. Miedzybrodzka, Zosia |
spellingShingle |
Cardy, Amanda H. Sharp, Linda Torrance, Nicola Hennekam, Raoul C. Miedzybrodzka, Zosia Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis |
author_facet |
Cardy, Amanda H. Sharp, Linda Torrance, Nicola Hennekam, Raoul C. Miedzybrodzka, Zosia |
author_sort |
Cardy, Amanda H. |
title |
Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis |
title_short |
Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis |
title_full |
Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis |
title_fullStr |
Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis |
title_full_unstemmed |
Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis |
title_sort |
is there evidence for aetiologically distinct subgroups of idiopathic congenital talipes equinovarus? a case-only study and pedigree analysis |
publishDate |
2011 |
url |
https://discovery.dundee.ac.uk/en/publications/a656c392-21b2-4e80-8d0b-9c3ab7d3e68b https://doi.org/10.1371/journal.pone.0017895 |
genre |
Orca |
genre_facet |
Orca |
op_source |
Cardy , A H , Sharp , L , Torrance , N , Hennekam , R C & Miedzybrodzka , Z 2011 , ' Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis ' , PLoS ONE , vol. 6 , no. 4 , e17895 , pp. - . https://doi.org/10.1371/journal.pone.0017895 |
op_relation |
https://discovery.dundee.ac.uk/en/publications/a656c392-21b2-4e80-8d0b-9c3ab7d3e68b |
op_rights |
info:eu-repo/semantics/restrictedAccess |
op_doi |
https://doi.org/10.1371/journal.pone.0017895 |
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PLoS ONE |
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e17895 |
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