Prenatal diagnosis of talipes equinovarus (clubfoot)
- Urania Magriples, MD
Urania Magriples, MD
- Associate Professor of Obstetrics and Gynecology
- Yale University School of Medicine
- Section Editors
- Louise Wilkins-Haug, MD, PhD
Louise Wilkins-Haug, MD, PhD
- Section Editor — Prenatal Diagnosis and Genetics
- Professor of Obstetrics, Gynecology, and Reproductive Biology
- Harvard Medical School
- Deborah Levine, MD
Deborah Levine, MD
- Section Editor — Imaging
- Professor of Radiology
- Director of Ob/Gyn Ultrasound
- Department of Radiology
- Beth Israel Deaconess Medical Center
Clubfoot, or talipes equinovarus, refers to a developmental deformity of the foot in which one or both feet are excessively plantar flexed, with the forefoot swung medially and the sole facing inward (picture 1). It is a common congenital malformation, typically discovered at the time of birth as an isolated anomaly in an otherwise normal neonate.
Clubfoot can be classified as congenital, syndromic, or positional. The congenital foot deformity affects the bones, muscles, tendons, and blood vessels of one or both feet. Syndromic cases are associated with additional anatomic malformations and/or chromosomal or genetic abnormalities. A positional clubfoot results from the baby's position in the uterus, and is often associated with a restrictive uterine environment (oligohydramnios, uterine anomalies). A positional clubfoot is flexible, rather than rigid, and can be positioned into a neutral position easily by hand.
PREVALENCE AND EPIDEMIOLOGY
The prevalence of clubfoot is 1 to 3 per 1000 live births in Caucasians . Male fetuses are predominately affected, with a 2-to-1 male to female ratio. The birth prevalence varies among different ethnic groups; the highest rates are seen in individuals of Polynesian ancestry (7 per 1000 live births) and the lowest in Asian populations (0.57 per 1000 live births) .
Clubfoot is bilateral in 30 to 60 percent of cases.
EMBRYOLOGY OF FOOT DEVELOPMENT
The foot sequentially assumes three different positions during embryonic and early fetal life: at the 15-mm stage (about 8 weeks of gestation), the foot is in a straight line with the leg; by the 30-mm stage (about 10 weeks of gestation), the foot rotates to a marked equinovarus-adductus position; and then by the 50-mm stage (about 11.5 weeks), it changes to a slightly equinovarus adductus position, which remains throughout fetal life [3,4]. These positional changes result from the growth of the distal ends of the fibula and the skeletal elements of the lateral foot during the "fibular phase" of rapid growth.To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Wynne-Davies R. Genetic and environmental factors in the etiology of talipes equinovarus. Clin Orthop Relat Res 1972; 84:9.
- Keret D, Ezra E, Lokiec F, et al. Efficacy of prenatal ultrasonography in confirmed club foot. J Bone Joint Surg Br 2002; 84:1015.
- Victoria-Diaz A, Victoria-Diaz J. Pathogenesis of idiopathic clubfoot. Clin Orthop Relat Res 1984; :14.
- Kawashima T, Uhthoff HK. Development of the foot in prenatal life in relation to idiopathic club foot. J Pediatr Orthop 1990; 10:232.
- Wang JH, Palmer RM, Chung CS. The role of major gene in clubfoot. Am J Hum Genet 1988; 42:772.
- de Andrade M, Barnholtz JS, Amos CI, et al. Segregation analysis of idiopathic talipes equinovarus in a Texan population. Am J Med Genet 1998; 79:97.
- Rebbeck TR, Dietz FR, Murray JC, Buetow KH. A single-gene explanation for the probability of having idiopathic talipes equinovarus. Am J Hum Genet 1993; 53:1051.
- Cowell HR, Wein BK. Genetic aspects of club foot. J Bone Joint Surg Am 1980; 62:1381.
- Dietz F. The genetics of idiopathic clubfoot. Clin Orthop Relat Res 2002; :39.
- Gurnett CA, Alaee F, Kruse LM, et al. Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. Am J Hum Genet 2008; 83:616.
- Alvarado DM, Aferol H, McCall K, et al. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. Am J Hum Genet 2010; 87:154.
- Werler MM, Yazdy MM, Kasser JR, et al. Medication use in pregnancy in relation to the risk of isolated clubfoot in offspring. Am J Epidemiol 2014; 180:86.
- Bronshtein M, Zimmer EZ. Transvaginal ultrasound diagnosis of fetal clubfeet at 13 weeks, menstrual age. J Clin Ultrasound 1989; 17:518.
- Treadwell MC, Stanitski CL, King M. Prenatal sonographic diagnosis of clubfoot: implications for patient counseling. J Pediatr Orthop 1999; 19:8.
- Offerdal K, Jebens N, Blaas HG, Eik-Nes SH. Prenatal ultrasound detection of talipes equinovarus in a non-selected population of 49 314 deliveries in Norway. Ultrasound Obstet Gynecol 2007; 30:838.
- Mahan ST, Yazdy MM, Kasser JR, Werler MM. Prenatal screening for clubfoot: what factors predict prenatal detection? Prenat Diagn 2014; 34:389.
- Mammen L, Benson CB. Outcome of fetuses with clubfeet diagnosed by prenatal sonography. J Ultrasound Med 2004; 23:497.
- Yamamoto H. A clinical, genetic and epidemiologic study of congenital club foot. Jinrui Idengaku Zasshi 1979; 24:37.
- Canto MJ, Cano S, Palau J, Ojeda F. Prenatal diagnosis of clubfoot in low-risk population: associated anomalies and long-term outcome. Prenat Diagn 2008; 28:343.
- Bakalis S, Sairam S, Homfray T, et al. Outcome of antenatally diagnosed talipes equinovarus in an unselected obstetric population. Ultrasound Obstet Gynecol 2002; 20:226.
- Sharma R, Stone S, Alzouebi A, et al. Perinatal outcome of prenatally diagnosed congenital talipes equinovarus. Prenat Diagn 2011; 31:142.
- Lauson S, Alvarez C, Patel MS, Langlois S. Outcome of prenatally diagnosed isolated clubfoot. Ultrasound Obstet Gynecol 2010; 35:708.
- Sharon-Weiner M, Sukenik-Halevy R, Tepper R, et al. Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography. Prenat Diagn 2017; 37:754.
- Tillett RL, Fisk NM, Murphy K, Hunt DM. Clinical outcome of congenital talipes equinovarus diagnosed antenatally by ultrasound. J Bone Joint Surg Br 2000; 82:876.
- Swamy R, Reichert B, Lincoln K, Lal M. Foetal and congenital talipes: interventions and outcome. Acta Paediatr 2009; 98:804.
- Yang H, Zheng Z, Cai H, et al. Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. Hum Genet 2016; 135:1181.
- Lei TY, Fu F, Li R, et al. Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract. Nephrol Dial Transplant 2017; 32:1665.
- Zhang Z, Kong Z, Zhu M, et al. Whole genome sequencing identifies ANXA3 and MTHFR mutations in a large family with an unknown equinus deformity associated genetic disorder. Mol Biol Rep 2016; 43:1147.
- Toufaily MH, Westgate MN, Holmes LB. Congenital talipes equinovarus: frequency of associated malformations not identified by prenatal ultrasound. Prenat Diagn 2015; 35:254.
- Wynne-Davies R. Family studies and the cause of congenital club foot. Talipes equinovarus, talipes calcaneo-valgus and metatarsus varus. J Bone Joint Surg Br 1964; 46:445.