Send to

Choose Destination
See comment in PubMed Commons below
Eur J Med Genet. 2014 Aug;57(8):473-9. doi: 10.1016/j.ejmg.2014.06.001. Epub 2014 Jun 13.

Etiopathogenesis of equinovarus foot malformations.

Author information

  • 1Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA. Electronic address:
  • 2University of Texas Medical School at Houston, TX, USA. Electronic address:


Congenital talipes equinovarus (CTEV) is the most common musculoskeletal birth defect affecting approximately 1/700-1/1000 of liveborns. Even though extensive epidemiological and genetic studies have been carried out to address its causes, the precise mechanisms leading to this common birth defect remain elusive. CTEV is a multifactorial disorder, hence the combination of genetic and environmental factors are known contributors to this developmental abnormality. So far a handful of genes involved in limb patterning like PITX1, HOXA, HOXD, TBX4, and RBM10, as well as genes involved in muscle contraction, have been identified as possible players. Among many environmental factors investigated, maternal smoking seems to hold the strongest consistent association with this disorder. This article will review and discuss some of the most common genetic and environmental factors associated with the etiopathogenesis of CTEV.

Copyright © 2014 Elsevier Masson SAS. All rights reserved.


Clubfoot environment; Clubfoot etiopathogenesis; Clubfoot genetics; Clubfoot maternal smoking; Congenital talipes equinovarus environment; Congenital talipes equinovarus genetics; Congenital talipes equinovarus maternal smoking

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk