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DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot)
  1. L Bonafé1,
  2. S H Blanton2,
  3. A Scott3,
  4. S Broussard4,
  5. C A Wise5,
  6. A Superti-Furga1,
  7. J T Hecht3,4
  1. 1University Children's Hospital, Zurich, Switzerland
  2. 2University of Virginia, Charlottesville, VA, USA
  3. 3Shriners Hospital for Children, Houston, TX, USA
  4. 4University of Texas Medical School, Houston, TX, USA
  5. 5Texas Scottish Rite Hospital, Dallas, TX, USA
  1. Correspondence to:
 Dr J T Hecht, University of Texas Medical School, Houston, TX, USA;
 Jacqueline.T.Hecht{at}uth.tmc.edu

https://doi.org/10.1136/jmg.39.4.e20

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    Idiopathic talipes equinovarus (ITEV) or isolated club foot deformity is a common birth defect having an average birth prevalence of 1 per 1000 live births.1, 2 However, the birth prevalence of ITEV varies among different populations, ranging from 0.39-7 per 1000 live births, with the highest rate in the Hawaiian and Maori populations.3–5 ITEV occurs more frequently in males and the skewed 2:1 ratio is consistent across all ethnic groups.1, 4–7 Bilateral deformity is seen in more than half of the cases regardless of race and unilateral defects occur more often on the right side.8

    ITEV is an isolated congenital deformity of the foot and lower leg occurring when the foot is plantar flexed and inverted.9 ITEV is just one of the many types of foot deformities that are referred to as club foot. Club foot is often used loosely to describe a variety of different abnormalities that are morphologically similar but aetiologically distinct.8 Both metatarsus adductus and talipes calcaneovalgus are considered mild and usually self-correcting abnormalities.9 While many refer to these mild conditions as club foot, talipes equinovarus (TEV) is suggested to be the only true club foot and generally requires serial manipulations and castings, followed by one or more surgical procedure(s).10, 11 Whereas TEV is part of many genetic syndromes, ITEV occurs as an isolated birth defect.12

    Epidemiological studies have attempted to define the aetiology of ITEV and none has shown a significant association with socioeconomic factors or teratogenic exposures in non-Hispanic white, Hawaiian, African American, and Oriental populations.2, 7, 13, 14 Theories surrounding the aetiology of ITEV can be grouped into several categories: extrinsic prenatal influences, intrinsic anatomical factors, and genetic factors. The oldest theory of ITEV causation …

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